Xanthomatosis, Cerebrotendinous

An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.

Synonym
Xanthomatosis, Cerebrotendinous

Excerpt	Reference
"Cerebrotendinous xanthomatosis is characterized by the accumulation of cholestanol and cholesterol in xanthomas and brain causing a number of severe symptoms."	( Björkhem, I; Leitersdorf, E, 2000)
"Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene."	( Bel, S; Castells, A; Díaz, P; García-Patos, V; Rodríguez, L; Selva, A; Wolthers, BG, 2001)
"The diagnosis of cerebrotendinous xanthomatosis is easily made in patients presenting all clinical symptoms expected in the disease."	( Burghaus, L; Haupt, WF; Liu, W, 2007)
"Cerebrotendinous xanthomatosis is an exceptionally rare condition in Indian subcontinent, however, it is potentially treatable if diagnosed."	( Chawla, BP; Mukherjee, AA; Puthran, RS; Rathi, SS, 2007)
"Cerebrotendinous xanthomatosis is an inherited autosomal recessive lipid storage disease caused by a 27-hydroxylase enzyme deficiency, characterised clinically by tendon xanthomas, premature cataracts, chronic diarrhoea and progressive neurologic dysfunction."	( Jimenez-Escrig, A; Lopez de Munain, A; Pilo de la Fuente, B; Ruiz, I, 2008)
"Cerebrotendinous xanthomatosis is an autosomal recessive disease of bile acid synthesis caused by 27-hydroxylase deficiency."	( Aaref, S; Berginer, VM; Falik-Zaccai, TC; Gross, B; Kfir, N; Morad, K; Morkos, S, 2009)
"Cerebrotendinous xanthomatosis is one of the rare forms of treatable hereditary neurodegenerative disorders."	( Jayakrishnan, C; Sadanan, S; Sandeep, P; Sreekumar, S; Thulasidharan, NK, 2009)
"Cerebrotendinous xanthomatosis is a rare neurodegenerative disease characterized by the accumulation of cholesterol and cholestanol in the brain and the tendons caused by mutations of the gene encoding sterol 27-hydroxylase (CYP27A1), which is involved in bile acid synthesis."	( Balogh, I; Harangi, J; Harangi, M; Kapás, I; Katkó, M; Kovács, GG; Madar, L; Molnár, MJ; Paragh, G; Seres, I; Varga, VE, 2014)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	3 (1.64)	23.3326
1990's	16 (8.74)	12.5806
2000's	64 (34.97)	18.1394
2010's	74 (40.44)	28.8240
2020's	26 (14.21)	9.53

Drug	Relationship Strength	Studies	Trials
choline	medium	2	1
creatine	medium	1	1
lactic acid	medium	2	1
inositol	low	1	0
nitrates	low	1	0
picolinic acid	low	1	0
carbamazepine	low	1	0
diphenylpyraline	low	1	0
valproic acid	low	1	0
midazolam	medium	1	1
piracetam	low	1	0
propofol	low	1	0
riluzole	low	1	0
prednisone	low	1	0
carbon tetrachloride	low	1	0
alanine	low	2	0
serine	low	1	0
aspartic acid	medium	3	1
valine	low	1	0
arginine	low	2	0
pyrroles	low	1	0
lithocholic acid	low	1	0
trolnitrate	low	1	0
ursodeoxycholic acid	medium	3	1
fomesafen	low	1	0
simvastatin	medium	11	1
pravastatin	low	2	0
atorvastatin	low	1	0
n-acetylaspartic acid	medium	3	1
25-hydroxycholesterol	low	1	0
lathosterol	low	4	0
fluorodeoxyglucose f18	low	1	0
cholest-5-ene-3,4-diol	low	1	0
7-ketocholesterol	low	5	0
homocysteine	low	1	0
ursocholic acid	medium	1	1
7 alpha-hydroxy-4-cholesten-3-one	low	5	0
27-hydroxycholesterol	low	7	0
cholesta-5,8-dien-3 beta-ol	low	1	0
proline	low	1	0
campesterol	low	1	0
troleandomycin	low	1	0
cholic acid	low	7	0
lanosterol	low	3	0
leupeptins	low	1	0
mevalonic acid	low	1	0
7-dehydrocholesterol	low	2	0
7-ketolithocholic acid	low	1	0
cerivastatin	low	1	0
gamma-sitosterol	low	2	0
benzyloxycarbonylleucyl-leucyl-leucine aldehyde	low	1	0
cholestane-3,5,6-triol	low	1	0
cytellin	low	4	0
cholestane-3,7,12,25-tetrol	low	1	0
calcitriol	low	1	0
cysteine	low	2	0
cholestanol	medium	76	3
2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane	low	1	0
24-hydroxycholesterol	low	1	0
phytosterols	low	4	0
glucagon-like peptide 1	low	1	0
technetium tc 99m sestamibi	low	1	0
cardiovascular agents	low	1	0
3-hydroxy-5-cholestenoic acid, (3beta,25r)-isomer	low	2	0
piperidines	low	1	0
rifampin	medium	1	1
cholestyramine resin	medium	3	1
technetium tc 99m bicisate	low	1	0

Protein Targets (545)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Sodium-dependent dopamine transporter	0	5	1	6
TDP1 protein	12	0	0	12
cytochrome P450 family 3 subfamily A polypeptide 4	8	0	0	8
estrogen nuclear receptor alpha	15	0	0	15
peripheral myelin protein 22	5	0	0	5
Alpha-crystallin B chain	0	0	2	2
3-hydroxy-3-methylglutaryl-coenzyme A reductase	0	8	1	9
Cellular tumor antigen p53	14	0	0	14
Integrin beta-3	2	0	1	3
Integrin alpha-V	0	0	1	1
Nuclear receptor ROR-gamma	4	0	1	5
Glutamate receptor ionotropic, NMDA 1	0	0	1	1
Sterol regulatory element-binding protein 2	0	1	0	1
Glutamate receptor ionotropic, NMDA 2A	0	0	1	1
Oxysterols receptor LXR-alpha	0	0	2	2
Glutamate receptor ionotropic, NMDA 2B	0	0	1	1
Oxysterol-binding protein 2	0	0	1	1
NPC1-like intracellular cholesterol transporter 1	0	0	2	2
Vitamin D3 receptor	0	5	7	14
serine/threonine-protein kinase PLK1	3	0	0	3
DNA polymerase iota isoform a (long)	6	0	0	6
geminin	15	0	0	15
Rap guanine nucleotide exchange factor 3	2	0	0	2
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	6	0	0	6
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	6	0	0	6
Carbonic anhydrase 1	0	2	0	4
Carbonic anhydrase 2	0	2	0	4
Alanine racemase, biosynthetic	0	0	0	1
5-hydroxytryptamine receptor 1D	0	0	0	2
Glutamate receptor ionotropic, NMDA 1	0	3	1	4
Proton-coupled amino acid transporter 1	0	5	0	5
Adenosine deaminase	0	0	0	1
Carbonic anhydrase 4	0	0	0	2
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
thioredoxin reductase	4	0	0	4
phosphopantetheinyl transferase	7	0	0	7
NFKB1 protein, partial	2	0	0	2
GLS protein	3	0	0	3
thyroid stimulating hormone receptor	8	0	0	8
alpha-galactosidase	1	0	0	1
euchromatic histone-lysine N-methyltransferase 2	14	0	0	14
cytochrome P450 2C19 precursor	2	0	0	2
chromobox protein homolog 1	6	0	0	6
flap endonuclease 1	4	0	0	4
muscarinic acetylcholine receptor M1	4	0	0	4
lethal factor (plasmid)	5	0	0	5
Cytochrome P450 3A4	0	6	0	8
Nitric oxide synthase, endothelial	0	0	0	2
Nitric oxide synthase, brain	0	0	0	1
Nitric oxide synthase, brain	0	0	0	1
Nitric oxide synthase, inducible	0	0	0	1
Nitric oxide synthase, inducible	0	0	1	3
Cationic amino acid transporter 3	0	1	0	1
ATP-dependent phosphofructokinase	3	0	0	3
Chain A, Ferritin light chain	5	0	0	5
aldehyde dehydrogenase 1 family, member A1	5	0	0	5
arylsulfatase A	3	0	0	3
Bloom syndrome protein isoform 1	5	0	0	5
lamin isoform A-delta10	10	0	0	10
Metabotropic glutamate receptor 6	0	0	1	1
Excitatory amino acid transporter 4	0	1	0	1
Glutamate transporter homolog	0	0	1	1
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	0	1	0	1
Excitatory amino acid transporter 1	0	1	0	1
Excitatory amino acid transporter 2	0	1	0	1
Excitatory amino acid transporter 3	0	1	0	1
Glutamate receptor ionotropic, NMDA 2A	0	1	1	2
Glutamate receptor ionotropic, NMDA 2B	0	1	1	2
Glutamate receptor ionotropic, NMDA 2C	0	1	1	2
Metabotropic glutamate receptor 1	0	0	1	1
Metabotropic glutamate receptor 2	0	0	1	1
Carbonic anhydrase-like protein, putative	0	0	0	1
Glutamate receptor ionotropic, NMDA 2D	0	1	1	2
Glutamate receptor ionotropic, NMDA 3B	0	1	1	2
Glutamate receptor ionotropic, NMDA 3A	0	1	1	2
Chain A, Cruzipain	3	0	0	3
RAR-related orphan receptor gamma	11	0	0	11
SMAD family member 2	5	0	0	5
SMAD family member 3	5	0	0	5
GLI family zinc finger 3	7	0	0	7
AR protein	10	0	0	10
caspase 7, apoptosis-related cysteine protease	6	0	0	6
estrogen receptor 2 (ER beta)	7	0	0	7
nuclear receptor subfamily 1, group I, member 3	8	0	0	8
glucocorticoid receptor [Homo sapiens]	10	0	0	10
retinoic acid nuclear receptor alpha variant 1	13	0	0	13
retinoid X nuclear receptor alpha	7	0	0	7
estrogen-related nuclear receptor alpha	14	0	0	14
pregnane X nuclear receptor	10	0	0	10
peroxisome proliferator-activated receptor delta	8	0	0	8
peroxisome proliferator activated receptor gamma	10	0	0	10
vitamin D (1,25- dihydroxyvitamin D3) receptor	8	0	0	8
caspase-3	6	0	0	6
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	9	0	0	9
Caspase-7	4	0	0	4
vitamin D3 receptor isoform VDRA	6	0	0	6
thyroid hormone receptor beta isoform a	4	0	0	4
caspase-3	4	0	0	4
thyroid hormone receptor beta isoform 2	8	0	0	8
nuclear factor erythroid 2-related factor 2 isoform 1	10	0	0	10
Voltage-dependent calcium channel gamma-2 subunit	4	0	0	4
Solute carrier organic anion transporter family member 2B1	0	4	0	6
ATP-dependent translocase ABCB1	0	7	0	7
Insulin receptor	0	5	0	5
Glutamate receptor 2	4	0	0	4
Dipeptidyl peptidase 4	0	1	0	1
Prostaglandin G/H synthase 2	0	5	0	5
3-hydroxy-3-methylglutaryl-coenzyme A reductase	0	5	0	5
Histone deacetylase 1	0	4	0	4
Histone deacetylase 2	0	4	0	4
Solute carrier organic anion transporter family member 1B3	0	4	0	6
Histone deacetylase 6	0	4	0	4
Broad substrate specificity ATP-binding cassette transporter ABCG2	0	2	0	2
Solute carrier organic anion transporter family member 1B1	0	7	0	10
Proteasome subunit beta type-11	0	1	0	1
Fumarate hydratase	1	0	0	1
PPM1D protein	2	0	0	2
EWS/FLI fusion protein	5	0	0	5
polyprotein	1	0	0	1
survival motor neuron protein isoform d	3	0	0	3
Calpain-9	0	1	0	1
Proteasome subunit alpha type-7	0	1	0	1
Interferon beta	6	0	0	6
Cathepsin B	0	1	0	1
Replicase polyprotein 1ab	0	1	0	1
Replicase polyprotein 1ab	0	1	0	1
Aromatase	0	1	0	1
Indoleamine 2,3-dioxygenase 1	0	1	0	1
Calpain-2 catalytic subunit	0	1	0	1
Proteasome subunit beta type-1	0	2	0	2
Proteasome subunit alpha type-1	0	1	0	1
Proteasome subunit alpha type-2	0	1	0	1
Proteasome subunit alpha type-3	0	1	0	1
Proteasome subunit alpha type-4	0	1	0	1
NF-kappa-B inhibitor alpha	0	0	1	1
Proteasome subunit beta type-8	0	1	0	1
Proteasome subunit beta type-9	0	1	0	1
Proteasome subunit alpha type-5	0	1	0	1
Proteasome subunit beta type-4	0	1	0	1
Proteasome subunit beta type-6	0	1	0	1
Proteasome subunit beta type-5	0	2	0	2
Proteasome subunit beta type-10	0	1	0	1
Cathepsin K	0	1	0	1
Proteasome subunit beta type-3	0	1	0	1
Proteasome subunit beta type-2	0	2	0	2
Proteasome subunit alpha type-6	0	1	0	1
Proteasome subunit alpha-type 8	0	1	0	1
Proteasome subunit beta type-7	0	1	0	1
Gamma-secretase subunit PEN-2	0	1	0	1
Chain A, Vitamin D Nuclear Receptor	0	0	1	1
Chain A, Beta-lactamase	7	0	0	7
Vitamin D3 receptor	0	0	1	1
USP1 protein, partial	5	0	0	5
Microtubule-associated protein tau	4	0	0	4
thioredoxin glutathione reductase	3	0	0	3
mitogen-activated protein kinase 1	3	0	0	3
nuclear receptor ROR-gamma isoform 1	4	0	0	4
ATP-binding cassette sub-family C member 3	0	9	0	9
Multidrug resistance-associated protein 4	0	9	0	9
Bile salt export pump	0	14	0	14
Vitamin D-binding protein	0	0	1	1
Cytochrome P450 1A2	0	1	0	2
Androgen receptor	0	1	0	1
Cytochrome P450 2D6	0	3	0	3
Cytochrome P450 2C9	0	5	0	6
Vitamin D3 receptor	0	1	1	3
Retinoic acid receptor RXR-alpha	0	0	1	1
Cytochrome P450 2C19	0	3	0	3
Kappa-type opioid receptor	0	0	1	1
Vitamin D3 receptor	0	0	1	1
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	0	0	1	1
Vitamin D3 receptor	0	1	1	2
Transporter	0	2	0	2
Canalicular multispecific organic anion transporter 1	0	9	0	9
Vitamin D3 receptor A	0	0	2	2
acetylcholinesterase	2	0	0	2
IDH1	4	0	0	4
nuclear factor erythroid 2-related factor 2 isoform 2	5	0	0	5
Vpr	1	0	0	1
Bile salt export pump	0	4	0	4
Albumin	0	0	2	2
Major prion protein	0	0	1	1
Sodium channel protein type 1 subunit alpha	0	2	0	2
Sodium channel protein type 2 subunit alpha	0	2	0	2
Sodium channel protein type 3 subunit alpha	0	1	0	1
UDP-glucuronosyltransferase 2B7	0	2	0	4
Cytochrome P450 2B6	0	0	2	2
Sodium channel protein type 4 subunit alpha	0	1	0	2
Cytochrome P450 2J2	0	3	0	3
Potassium voltage-gated channel subfamily H member 2	0	4	0	4
Sodium channel protein type 9 subunit alpha	0	2	0	2
Frizzled-8	0	0	1	1
P2X purinoceptor 4	0	1	0	1
pregnane X receptor	4	0	0	4
potassium voltage-gated channel subfamily H member 2 isoform d	6	0	0	6
Cytochrome P450 2E1	0	1	0	1
Luciferase	5	0	0	5
farnesoid X nuclear receptor	7	0	0	7
v-jun sarcoma virus 17 oncogene homolog (avian)	10	0	0	10
Alpha-2A adrenergic receptor	0	1	2	3
Alpha-2B adrenergic receptor	0	2	2	4
Alpha-2C adrenergic receptor	0	0	2	2
Retinoic acid receptor RXR-alpha	0	0	1	1
Guanine nucleotide-binding protein G	3	0	0	3
Ileal sodium/bile acid cotransporter	0	2	0	2
TAR DNA-binding protein 43	5	0	0	5
Bile acid receptor	0	0	1	1
G-protein coupled bile acid receptor 1	0	1	4	5
Bile acid receptor	0	1	4	5
Ubiquitin carboxyl-terminal hydrolase 2	0	3	0	3
Phospholipase A2	0	0	1	1
G-protein coupled bile acid receptor 1	0	1	0	1
Chain A, Acetylcholinesterase	0	0	1	1
Chain A, Acetylcholinesterase	0	0	1	1
Chain A, Acetylcholinesterase	0	0	1	1
Chain A, Acetylcholinesterase	0	0	1	1
Chain A, Acetylcholinesterase	0	0	1	1
Chain A, Acetylcholinesterase	0	0	1	1
Chain A, Acetylcholinesterase	0	0	1	1
Chain A, Putative Glycine Betaine-binding Abc Transporter Protein	0	0	1	1
Chain A, PUTATIVE GLYCINE BETAINE-BINDING ABC TRANSPORTER PROTEIN	0	0	1	1
Chain A, Glycine betaine/carnitine/choline-binding protein	0	0	1	1
Chain A, Glycine betaine/carnitine/choline-binding protein	0	0	1	1
Chain A, Glycine betaine/carnitine/choline-binding protein	0	0	1	1
Chain A, Glycine betaine/carnitine/choline-binding protein	0	0	1	1
Chain A, Choline-binding protein	0	0	1	1
Solute carrier family 22 member 1	0	1	0	2
Solute carrier family 22 member 2	0	0	0	1
Solute carrier family 22 member 1	0	1	0	2
Solute carrier family 22 member 2	0	1	0	1
Neuronal acetylcholine receptor subunit alpha-3	0	1	0	1
Neuronal acetylcholine receptor subunit alpha-4	1	1	0	2
Neuronal acetylcholine receptor subunit alpha-2	0	1	0	1
Neuronal acetylcholine receptor subunit beta-2	1	1	0	2
Neuronal acetylcholine receptor subunit beta-3	0	1	0	1
Neuronal acetylcholine receptor subunit beta-4	0	1	0	1
Neuronal acetylcholine receptor subunit alpha-5	0	1	0	1
Acetylcholinesterase	0	2	0	2
Sodium- and chloride-dependent creatine transporter 1	0	1	0	1
Choline O-acetyltransferase	0	0	0	1
Neuronal acetylcholine receptor subunit alpha-6	0	1	0	1
Neuronal acetylcholine receptor subunit alpha-9	0	1	0	1
Neuronal acetylcholine receptor subunit alpha-7	0	1	0	1
Solute carrier family 22 member 1	0	1	0	2
High affinity choline transporter 1	0	1	0	1
Neuronal acetylcholine receptor subunit alpha-10	0	1	0	1
Solute carrier family 22 member 2	0	1	0	2
Sodium- and chloride-dependent creatine transporter 1	0	1	0	1
cytochrome P450 2D6 isoform 1	1	0	0	1
progesterone receptor	6	0	0	6
regulator of G-protein signaling 4	3	0	0	3
G	4	0	0	4
cytochrome P450 2D6	4	0	0	4
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a	5	0	0	5
Histone H2A.x	5	0	0	5
NPC intracellular cholesterol transporter 1 precursor	2	0	0	2
D(1A) dopamine receptor	2	0	0	2
huntingtin isoform 2	1	0	0	1
atrial natriuretic peptide receptor 2 precursor	1	0	0	1
ras-related protein Rab-9A	2	0	0	2
serine/threonine-protein kinase mTOR isoform 1	1	0	0	1
Gamma-aminobutyric acid receptor subunit pi	0	1	0	1
Gamma-aminobutyric acid receptor subunit delta	0	1	0	1
Sodium-dependent noradrenaline transporter	0	1	0	1
5-hydroxytryptamine receptor 4	0	4	0	4
Potassium channel subfamily K member 2	0	1	1	2
HLA class I histocompatibility antigen, B alpha chain	4	0	0	4
Aldo-keto reductase family 1 member B1	0	9	0	9
5-hydroxytryptamine receptor 2C	0	2	0	2
Muscarinic acetylcholine receptor M5	0	2	0	2
Cytochrome P450 2C8	0	1	0	1
Muscarinic acetylcholine receptor M1	0	2	0	2
Angiotensin-converting enzyme	0	2	0	2
Dipeptidyl peptidase 4	0	1	0	1
5-hydroxytryptamine receptor 2A	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-1	0	2	1	3
Alpha-1B adrenergic receptor	0	2	0	2
Gamma-aminobutyric acid receptor subunit beta-1	0	1	1	2
Gamma-aminobutyric acid receptor subunit gamma-2	0	2	1	3
Alpha-2B adrenergic receptor	0	1	0	1
Muscarinic acetylcholine receptor M3	0	2	0	2
Acetylcholinesterase	0	1	0	1
Alpha-2C adrenergic receptor	0	1	0	1
Alpha-2A adrenergic receptor	0	1	0	1
Prostaglandin G/H synthase 1	0	2	0	2
Alpha-1D adrenergic receptor	0	2	0	2
Sodium-dependent noradrenaline transporter	0	8	1	9
Sodium-dependent dopamine transporter	0	2	0	2
Potassium voltage-gated channel subfamily C member 1	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4A	0	1	0	1
5-hydroxytryptamine receptor 2A	0	2	0	2
5-hydroxytryptamine receptor 2C	0	4	0	4
Gamma-aminobutyric acid receptor subunit beta-3	0	2	1	3
5-hydroxytryptamine receptor 2B	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-5	0	1	1	2
Sodium-dependent serotonin transporter	0	2	2	4
Sodium-dependent serotonin transporter	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-3	0	1	1	2
Alpha-1A adrenergic receptor	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-2	0	1	1	2
Gamma-aminobutyric acid receptor subunit beta-2	0	1	1	2
Gamma-aminobutyric acid receptor subunit alpha-4	0	1	1	2
D(1A) dopamine receptor	1	0	0	1
5-hydroxytryptamine receptor 6	0	2	0	2
Spike glycoprotein	5	0	0	5
D(2) dopamine receptor	0	1	0	1
Gamma-aminobutyric acid receptor subunit epsilon	0	1	0	1
Gastrin/cholecystokinin type B receptor	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4B	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4D	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-6	0	1	1	2
Cytochrome P450 1B1	0	1	0	1
Sigma intracellular receptor 2	0	1	0	1
Sigma non-opioid intracellular receptor 1	0	3	0	3
Sodium-dependent serotonin transporter	0	1	0	1
Sodium-dependent dopamine transporter	0	1	0	1
Nuclear receptor subfamily 3 group C member 3	0	2	0	2
Beta-2 adrenergic receptor	0	1	0	1
Gamma-aminobutyric acid receptor subunit gamma-1	0	1	0	1
Inositol hexakisphosphate kinase 1	4	0	0	4
Ataxin-2	4	0	0	4
Sigma non-opioid intracellular receptor 1	0	2	0	2
Gamma-aminobutyric acid receptor subunit gamma-3	0	1	0	1
Sigma non-opioid intracellular receptor 1	0	1	0	1
Gamma-aminobutyric acid receptor subunit theta	0	1	0	1
Transporter	0	1	0	1
Histamine H3 receptor	0	1	0	1
cytochrome P450 2C9, partial	4	0	0	4
hypoxia-inducible factor 1 alpha subunit	4	0	0	4
Glucagon-like peptide 1 receptor	0	0	1	1
Glucagon-like peptide 1 receptor	0	1	1	2
Glucagon receptor	0	0	1	1
Glucagon receptor	0	0	1	1
N(G),N(G)-dimethylarginine dimethylaminohydrolase 1	0	1	0	1
Chain B, Pulmonary surfactant-associated protein D	0	1	0	1
Chain A, Pulmonary surfactant-associated protein D	0	1	0	1
parathyroid hormone/parathyroid hormone-related peptide receptor precursor	2	0	0	2
Amyloid-beta precursor protein	0	1	0	1
Sodium/myo-inositol cotransporter 2	0	1	0	1
thyroid stimulating hormone receptor	1	0	0	1
cellular tumor antigen p53 isoform a	2	0	0	2
Integrin alpha-IIb	2	0	0	2
Lanosterol 14-alpha demethylase	0	0	0	1
Peroxisome proliferator-activated receptor alpha	1	0	0	1
Lanosterol 14-alpha demethylase	0	2	0	3
14-alpha sterol demethylase	0	0	0	1
Chain A, Breast cancer type 1 susceptibility protein	1	0	0	1
Chain A, Putative fructose-1,6-bisphosphate aldolase	2	0	0	2
Chain A, HADH2 protein	3	0	0	3
Chain B, HADH2 protein	3	0	0	3
Chain A, JmjC domain-containing histone demethylation protein 3A	3	0	0	3
interleukin 8	2	0	0	2
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	4	0	0	4
activating transcription factor 6	3	0	0	3
thyrotropin-releasing hormone receptor	2	0	0	2
heat shock protein beta-1	4	0	0	4
nuclear factor NF-kappa-B p105 subunit isoform 1	1	0	0	1
DNA polymerase kappa isoform 1	3	0	0	3
cytochrome P450 3A4 isoform 1	4	0	0	4
histone acetyltransferase KAT2A isoform 1	2	0	0	2
carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 isoform 1	0	1	0	1
Gamma-aminobutyric acid receptor subunit pi	4	2	1	7
Polyunsaturated fatty acid lipoxygenase ALOX15B	2	0	0	2
60 kDa chaperonin	0	1	0	1
60 kDa heat shock protein, mitochondrial	0	2	0	2
Gamma-aminobutyric acid receptor subunit beta-1	4	2	1	7
Tyrosine-protein phosphatase non-receptor type 2	0	1	0	1
Tyrosine-protein phosphatase non-receptor type 1	0	1	0	1
Gamma-aminobutyric acid receptor subunit delta	4	2	1	7
Gamma-aminobutyric acid receptor subunit gamma-2	4	2	1	7
Gamma-aminobutyric acid receptor subunit alpha-5	4	2	1	7
Gamma-aminobutyric acid receptor subunit alpha-3	4	2	1	7
Gamma-aminobutyric acid receptor subunit gamma-1	4	2	1	7
Gamma-aminobutyric acid receptor subunit alpha-2	4	2	1	7
Platelet-activating factor receptor	1	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-4	4	2	1	7
Gamma-aminobutyric acid receptor subunit gamma-3	4	2	1	7
Ephrin type-A receptor 2	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-6	4	2	1	7
Alpha-synuclein	3	1	0	4
Histamine H2 receptor	3	0	0	3
Caspase-7	1	0	0	1
10 kDa heat shock protein, mitochondrial	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-1	4	2	1	7
Gamma-aminobutyric acid receptor subunit beta-3	4	2	1	7
Gamma-aminobutyric acid receptor subunit beta-2	4	2	1	7
Ephrin type-A receptor 2	0	1	0	1
Thiosulfate sulfurtransferase	0	2	0	2
60 kDa chaperonin	0	2	0	2
N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D	0	1	0	1
10 kDa chaperonin	0	2	0	2
GABA theta subunit	4	2	1	7
Gamma-aminobutyric acid receptor subunit epsilon	4	2	1	7
large T antigen	0	1	0	1
Chain A, Antigen Cd11a (p180)	0	1	0	1
Chain A, 2-oxoglutarate Oxygenase	2	0	0	2
15-lipoxygenase, partial	3	0	0	3
Smad3	2	0	0	2
PINK1	2	0	0	2
isocitrate dehydrogenase 1, partial	1	0	0	1
Parkin	3	0	0	3
nuclear receptor subfamily 1, group I, member 2	2	0	0	2
urokinase-type plasminogen activator precursor	3	0	0	3
plasminogen precursor	3	0	0	3
bcl-2-related protein A1	0	1	0	1
urokinase plasminogen activator surface receptor precursor	3	0	0	3
Integrin beta-2	0	1	0	1
Intercellular adhesion molecule 1	0	1	0	1
Neutrophil elastase	0	1	0	1
Androgen receptor	0	2	0	2
Integrin alpha-L	0	1	1	2
Substance-K receptor	0	2	0	2
Adenosine receptor A1	0	2	0	2
Rap guanine nucleotide exchange factor 4	2	0	0	2
Acyl-CoA:cholesterol acyltransferase	0	1	0	1
ATP-dependent translocase ABCB1	0	2	0	2
Translocator protein	0	1	0	1
UDP-glucuronosyltransferase 1-6	0	1	0	2
ATP-dependent translocase ABCB1	0	2	0	2
UDP-glucuronosyltransferase 1A1	0	2	0	2
UDP-glucuronosyltransferase 1A4	0	1	0	1
UDP-glucuronosyltransferase 2B10	0	1	0	1
67.9K protein	1	0	0	1
transcriptional regulator ERG isoform 3	1	0	0	1
peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	1	0	0	1
Solute carrier family 22 member 20	0	1	0	1
Solute carrier family 22 member 6	0	1	0	1
Carbonic anhydrase 4	0	1	0	1
Carbonic anhydrase	0	1	0	1
Sodium/iodide cotransporter	0	1	0	1
Carbonic anhydrase 15	0	1	0	1
bromodomain adjacent to zinc finger domain 2B	2	0	0	2
lethal(3)malignant brain tumor-like protein 1 isoform I	1	0	0	1
Beta-lactamase	0	1	0	1
Beta-lactamase	0	1	1	2
Nicotinate phosphoribosyltransferase	0	1	0	1
Transmembrane prolyl 4-hydroxylase	0	1	0	1
ATAD5 protein, partial	2	0	0	2
Hsf1 protein	0	0	1	2
M-phase phosphoprotein 8	1	0	0	1
Synaptic vesicle glycoprotein 2A	0	1	0	1
Solute carrier organic anion transporter family member 1A4	0	1	0	2
Solute carrier family 22 member 6	0	1	0	1
Solute carrier organic anion transporter family member 1A1	0	1	0	2
Solute carrier family 22 member 6	0	1	0	1
Solute carrier family 22 member 7	0	1	0	1
Canalicular multispecific organic anion transporter 1	0	1	0	2
Solute carrier family 22 member 8	0	1	0	1
Solute carrier family 22 member 11	0	1	0	1
Solute carrier family 22 member 8	0	1	0	2
Solute carrier family 22 member 7	0	1	0	1
Glucocorticoid receptor	0	2	2	4
Glycine receptor subunit alpha-1	0	2	0	2
Glycine receptor subunit beta	0	2	0	2
Glycine receptor subunit alpha-2	0	2	0	2
Glycine receptor subunit alpha-3	0	2	0	2
Glutamate 5-kinase	0	0	0	1
Angiotensin-converting enzyme	0	1	0	1
Neutral amino acid transporter A	0	2	0	2
Neutral amino acid transporter B(0)	0	2	0	2
Amino acid transporter	0	2	0	2
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 1	1	0	0	1
Fatty-acid amide hydrolase 1	0	1	0	1
UDP-glucuronosyltransferase 1A9	0	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-1	0	0	0	1
Gamma-aminobutyric acid receptor subunit beta-1	0	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-2	0	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-3	0	0	0	1
Polyunsaturated fatty acid lipoxygenase ALOX15	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-4	0	0	0	1
Gamma-aminobutyric acid receptor subunit gamma-2	0	0	0	1
Sodium- and chloride-dependent GABA transporter 1	0	1	0	1
Sodium- and chloride-dependent GABA transporter 2	0	1	0	1
Sodium- and chloride-dependent GABA transporter 3	0	1	0	1
5-hydroxytryptamine receptor 2B	0	2	0	2
Sodium- and chloride-dependent betaine transporter	0	1	0	1
Fatty-acid amide hydrolase 1	0	1	0	1
UDP-glucuronosyltransferase 1A8	0	0	0	1
DNA-directed RNA polymerase subunit beta	0	1	0	1
Nuclear receptor subfamily 1 group I member 2	0	0	1	1
Albumin	0	0	1	1
NH(3)-dependent NAD(+) synthetase	0	1	0	1
Arylacetamide deacetylase	0	1	0	2
Caspase-1	0	1	0	1
Solute carrier organic anion transporter family member 1A2	0	1	0	1
Glutathione S-transferase omega-1	0	1	0	1
DNA gyrase subunit B	0	1	0	1
DNA gyrase subunit A	0	1	0	1
Enoyl-[acyl-carrier-protein] reductase [NADH]	0	1	0	1
DNA-directed RNA polymerase subunit beta	0	1	0	1
nonstructural protein 1	1	0	0	1
pyruvate kinase	1	0	0	1
aryl hydrocarbon receptor	1	0	0	1
lysosomal alpha-glucosidase preproprotein	1	0	0	1
peripheral myelin protein 22 isoform 1	1	0	0	1
cytochrome P450 2C9 precursor	1	0	0	1
mu-type opioid receptor isoform MOR-1	0	0	1	1
histone deacetylase 9 isoform 3	1	0	0	1
ubiquitin carboxyl-terminal hydrolase 2 isoform a	1	0	0	1
5-hydroxytryptamine receptor 2A	0	0	1	1
pyruvate kinase PKM isoform b	1	0	0	1
Dihydrofolate reductase	0	1	0	1
Ornithine decarboxylase	1	0	0	1
Disintegrin and metalloproteinase domain-containing protein 17	1	0	0	1
Pteridine reductase 1	0	2	0	2
ATPase family AAA domain-containing protein 5	3	0	0	3
Acetylcholinesterase	0	1	0	1
Pyruvate kinase PKM	0	0	1	1
Cholinesterase	0	1	0	1
photoreceptor-specific nuclear receptor	0	1	0	1
transactivating tegument protein VP16 [Human herpesvirus 1]	0	1	0	1
DNA dC->dU-editing enzyme APOBEC-3G isoform 1	1	0	0	1
Nuclear receptor subfamily 4 group A member 2	0	0	1	1
3-hydroxy-3-methylglutaryl-coenzyme A reductase	0	1	0	1
Sodium/bile acid cotransporter	0	1	0	1
CDGSH iron-sulfur domain-containing protein 1	0	2	0	2
M1-family alanyl aminopeptidase	0	1	0	1
Chain A, Arginase 1	0	1	0	1
Large neutral amino acids transporter small subunit 1	0	1	0	1
Cocaine esterase	0	1	0	1
Histone deacetylase 3	0	2	0	2
Cytochrome P450 2A6	0	1	0	1
Tissue factor	0	1	0	1
Aldo-keto reductase family 1 member A1	0	1	0	1
Liver carboxylesterase 1	0	1	0	1
Aldo-keto reductase family 1 member A1	0	1	0	1
Histone deacetylase 4	0	2	0	2
Aldo-keto reductase family 1 member A1	0	1	0	1
Aldo-keto reductase family 1 member B7	0	1	0	1
Histone deacetylase 7	0	2	0	2
Polyamine deacetylase HDAC10	0	2	0	2
Histone deacetylase 11	0	2	0	2
Histone deacetylase 8	0	2	0	2
NAD-dependent protein deacylase sirtuin-5, mitochondrial	0	1	0	1
Histone deacetylase 9	0	2	0	2
Histone deacetylase 5	0	2	0	2
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Xanthomatosis, Cerebrotendinous

Synonyms(1)

Research Excerpts

Overview

Research

Studies (183)

Protein Targets (545)

Xanthomatosis, Cerebrotendinous

Synonyms(1)

Research Excerpts

Overview

Research

Studies (183)

Drugs Studied (78)

Protein Targets (545)