Page last updated: 2024-09-27

Bulbo-Spinal Atrophy, X-Linked

An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.

Synonyms(1)

Synonym
Bulbo-Spinal Atrophy, X-Linked

Research

Studies (54)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's11 (20.37)18.1394
2010's34 (62.96)28.8240
2020's9 (16.67)9.53
DrugIndicatedRelationship StrengthStudiesTrials
choline0low20
lactic acid0low10
hydrogen0low10
melatonin0low10
bicalutamide0low30
clenbuterol0medium31
flutamide0low20
mexiletine0medium22
propranolol0low10
spironolactone0low10
aspartic acid0low20
glutamine0low10
trichloroacetic acid0low10
trehalose0low40
dihydrotestosterone0low10
barium sulfate0low10
fomesafen0low10
n-acetylaspartic acid0low20
fluorodeoxyglucose f180low10
leuprolide0low90
curcumin0low10
quinine0low10
goserelin0low10
phosphocreatine0low20
alpha-synuclein0low10
nad0low10
oligonucleotides0low10
deoxyguanosine0low10
8-hydroxy-2'-deoxyguanosine0low10

Protein Targets (487)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, Avidin0022
Chain A, Avidin0022
Chain B, Avidin0022
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE2002
Chain A, TYROSYL-DNA PHOSPHODIESTERASE3003
Chain A, Ferritin light chain3003
phosphopantetheinyl transferase3003
aldehyde dehydrogenase 1 family, member A15005
arylsulfatase A4004
euchromatic histone-lysine N-methyltransferase 27007
Bloom syndrome protein isoform 13003
cytochrome P450 2C19 precursor2002
lethal factor (plasmid)2002
lamin isoform A-delta104004
Metabotropic glutamate receptor 60011
Excitatory amino acid transporter 40101
Glutamate transporter homolog0011
Carbonic anhydrase 10002
Carbonic anhydrase 20002
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase0101
5-hydroxytryptamine receptor 1D0001
Glutamate receptor ionotropic, NMDA 1 0101
Excitatory amino acid transporter 10101
Excitatory amino acid transporter 20101
Excitatory amino acid transporter 30101
Glutamate receptor ionotropic, NMDA 2A 0101
Glutamate receptor ionotropic, NMDA 2B0101
Glutamate receptor ionotropic, NMDA 2C0101
Metabotropic glutamate receptor 10011
Metabotropic glutamate receptor 20011
Carbonic anhydrase-like protein, putative0002
Glutamate receptor ionotropic, NMDA 2D0101
Glutamate receptor ionotropic, NMDA 3B0101
Carbonic anhydrase 40001
Glutamate receptor ionotropic, NMDA 3A0101
Chain A, Beta-lactamase2002
thioredoxin reductase5005
RAR-related orphan receptor gamma8008
ATAD5 protein, partial4004
TDP1 protein7007
GLI family zinc finger 38008
AR protein9009
estrogen receptor 2 (ER beta)6006
progesterone receptor6006
EWS/FLI fusion protein3004
retinoid X nuclear receptor alpha6006
estrogen-related nuclear receptor alpha8008
pregnane X nuclear receptor8008
estrogen nuclear receptor alpha120012
peroxisome proliferator activated receptor gamma5005
aryl hydrocarbon receptor5005
activating transcription factor 63003
nuclear receptor subfamily 1, group I, member 21001
chromobox protein homolog 16006
thyroid hormone receptor beta isoform 27007
tyrosine-protein kinase Yes1001
nuclear factor erythroid 2-related factor 2 isoform 18008
nuclear receptor ROR-gamma isoform 13003
ATP-binding cassette sub-family C member 30707
Multidrug resistance-associated protein 40707
Voltage-dependent calcium channel gamma-2 subunit5005
Bile salt export pump0707
Estrogen receptor0314
Glucocorticoid receptor0416
Cellular tumor antigen p537007
Progesterone receptor0202
Progesterone receptor0426
Glucocorticoid receptor0202
Androgen receptor08416
Androgen receptor08110
Androgen receptor0213
Glutamate receptor 25005
Mineralocorticoid receptor0202
Testosterone 17-beta-dehydrogenase 30202
Progesterone receptor0202
Canalicular multispecific organic anion transporter 10707
ALK tyrosine kinase receptor0202
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Putative Glycine Betaine-binding Abc Transporter Protein0011
Chain A, PUTATIVE GLYCINE BETAINE-BINDING ABC TRANSPORTER PROTEIN0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Choline-binding protein0011
muscarinic acetylcholine receptor M13003
Solute carrier family 22 member 10203
Solute carrier family 22 member 20103
Solute carrier family 22 member 1 0304
Solute carrier family 22 member 20202
Neuronal acetylcholine receptor subunit alpha-30101
Neuronal acetylcholine receptor subunit alpha-40101
Neuronal acetylcholine receptor subunit alpha-20101
Neuronal acetylcholine receptor subunit beta-20101
Neuronal acetylcholine receptor subunit beta-30101
Neuronal acetylcholine receptor subunit beta-40101
Neuronal acetylcholine receptor subunit alpha-50101
Acetylcholinesterase0303
Sodium- and chloride-dependent creatine transporter 10101
Choline O-acetyltransferase 0001
Neuronal acetylcholine receptor subunit alpha-60101
Neuronal acetylcholine receptor subunit alpha-90101
Neuronal acetylcholine receptor subunit alpha-70101
Solute carrier family 22 member 10305
High affinity choline transporter 10101
Neuronal acetylcholine receptor subunit alpha-100101
Solute carrier family 22 member 20304
ATP-dependent phosphofructokinase4004
regulator of G-protein signaling 42002
cytochrome P450 2D65005
thyroid stimulating hormone receptor5005
DNA polymerase kappa isoform 13003
peripheral myelin protein 224004
histone acetyltransferase KAT2A isoform 11001
Beta-2 adrenergic receptor0426
Beta-1 adrenergic receptor0415
5-hydroxytryptamine receptor 1A0416
5-hydroxytryptamine receptor 1B0404
Delta-type opioid receptor0011
Beta-2 adrenergic receptor 0013
Beta-2 adrenergic receptor0124
ATPase family AAA domain-containing protein 54004
Ataxin-25005
Chain A, Breast cancer type 1 susceptibility protein1001
Chain A, Putative fructose-1,6-bisphosphate aldolase1001
Chain A, HADH2 protein3003
Chain B, HADH2 protein3003
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Chain A, 2-oxoglutarate Oxygenase2002
Chain A, Cruzipain1001
Luciferase2002
interleukin 84004
acetylcholinesterase2002
Nrf21001
15-lipoxygenase, partial3003
pregnane X receptor3003
hypoxia-inducible factor 1 alpha subunit2002
SMAD family member 22002
USP1 protein, partial2002
GLS protein3003
SMAD family member 32002
Microtubule-associated protein tau1001
alkaline phosphatase, intestinal0101
thioredoxin glutathione reductase1001
Smad32002
apical membrane antigen 1, AMA11001
caspase 7, apoptosis-related cysteine protease2002
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
PINK11001
thyroid stimulating hormone receptor3003
nuclear receptor subfamily 1, group I, member 36006
glucocorticoid receptor [Homo sapiens]5005
retinoic acid nuclear receptor alpha variant 17007
farnesoid X nuclear receptor3003
glucocerebrosidase1001
Parkin1001
bromodomain adjacent to zinc finger domain 2B1001
toll-like receptor 90101
peroxisome proliferator-activated receptor delta4004
vitamin D (1,25- dihydroxyvitamin D3) receptor4004
caspase-32002
IDH12002
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
TPA: protein transporter TIM100101
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a5005
thyrotropin-releasing hormone receptor2002
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a3003
v-jun sarcoma virus 17 oncogene homolog (avian)3003
Histone H2A.x4004
lysosomal alpha-glucosidase preproprotein1001
alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein0101
hemoglobin subunit beta1001
cellular tumor antigen p53 isoform a3003
polyunsaturated fatty acid lipoxygenase ALOX121001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 12002
perilipin-50101
vitamin D3 receptor isoform VDRA2002
intestinal alkaline phosphatase precursor0101
thyroid hormone receptor beta isoform a2002
perilipin-10101
potassium voltage-gated channel subfamily H member 2 isoform d3003
transcriptional regulator ERG isoform 33003
heat shock protein beta-11001
huntingtin isoform 22002
importin subunit beta-1 isoform 11001
pyruvate kinase PKM isoform a1001
DNA polymerase beta1001
mitogen-activated protein kinase 12002
nuclear factor NF-kappa-B p105 subunit isoform 11001
flap endonuclease 12002
snurportin-11001
histone-lysine N-methyltransferase 2A isoform 2 precursor2002
peptidyl-prolyl cis-trans isomerase NIMA-interacting 13003
tumor susceptibility gene 101 protein1001
GTP-binding nuclear protein Ran isoform 11001
DNA polymerase iota isoform a (long)2002
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
geminin6006
1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a0101
cytochrome P450 3A4 isoform 14004
muscleblind-like protein 1 isoform 12002
DNA dC->dU-editing enzyme APOBEC-3G isoform 11001
alkaline phosphatase, germ cell type preproprotein0101
caspase-1 isoform alpha precursor1001
hypothetical protein SA14220101
DNA dC->dU-editing enzyme APOBEC-3F isoform a1001
neuropeptide S receptor isoform A1001
Gamma-aminobutyric acid receptor subunit pi4116
Prostaglandin E synthase0101
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
Histone deacetylase 30101
Acetylcholinesterase0101
Lysine-specific histone demethylase 1A0101
D-amino-acid oxidase0101
Phospholipase A20101
Sarcoplasmic/endoplasmic reticulum calcium ATPase 10202
Amyloid-beta precursor protein0102
Integrin beta-33003
Neuronal proto-oncogene tyrosine-protein kinase Src 0101
Prostaglandin G/H synthase 10101
Cholinesterase0202
Heme oxygenase 1 0101
Integrin alpha-IIb3003
Glutathione S-transferase P0101
Polyunsaturated fatty acid 5-lipoxygenase0101
60 kDa chaperonin0101
Replicase polyprotein 1ab0112
Replicase polyprotein 1ab0112
Microtubule-associated protein tau0102
60 kDa heat shock protein, mitochondrial0101
Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 0101
Tissue factor0101
Tyrosinase0101
Aminopeptidase N0101
Aminopeptidase N0101
Gamma-aminobutyric acid receptor subunit beta-14116
Alpha-1B adrenergic receptor0213
Sarcoplasmic/endoplasmic reticulum calcium ATPase 20202
Glycogen synthase kinase-3 beta0101
Gamma-aminobutyric acid receptor subunit delta4116
Gamma-aminobutyric acid receptor subunit gamma-24116
Gamma-aminobutyric acid receptor subunit alpha-54116
Gamma-aminobutyric acid receptor subunit alpha-34116
Amine oxidase [flavin-containing] A0202
Voltage-dependent L-type calcium channel subunit alpha-1C0202
Gamma-aminobutyric acid receptor subunit gamma-14116
Gamma-aminobutyric acid receptor subunit alpha-24116
Heme oxygenase 20101
Alpha-1D adrenergic receptor0213
Amine oxidase [flavin-containing] B0202
Voltage-dependent L-type calcium channel subunit alpha-1D0101
Proteasome subunit beta type-50101
Gamma-aminobutyric acid receptor subunit alpha-44116
Gamma-aminobutyric acid receptor subunit gamma-34116
Gamma-aminobutyric acid receptor subunit alpha-64116
Prostaglandin G/H synthase 20101
17-beta-hydroxysteroid dehydrogenase type 20101
Alpha-synuclein2114
Alpha-1A adrenergic receptor0314
Histamine H2 receptor2002
Glycogen synthase kinase-3 beta0101
Nuclear receptor ROR-gamma4004
Caspase-71001
Histone deacetylase 40101
Beta-secretase 10101
10 kDa heat shock protein, mitochondrial0101
Gamma-aminobutyric acid receptor subunit alpha-14116
Gamma-aminobutyric acid receptor subunit beta-34116
Guanine nucleotide-binding protein G1001
Gamma-aminobutyric acid receptor subunit beta-24116
Cholinesterase0101
Voltage-dependent L-type calcium channel subunit alpha-1S0101
Lactoylglutathione lyase0101
Histone acetyltransferase p3000101
TAR DNA-binding protein 431001
Serine/threonine-protein kinase PAK 10101
Histone deacetylase 10202
5-hydroxytryptamine receptor 40011
Sodium/bile acid cotransporter0112
Nuclear factor erythroid 2-related factor 20012
Thiosulfate sulfurtransferase0101
Thioredoxin reductase 1, cytoplasmic0101
60 kDa chaperonin 0101
10 kDa chaperonin 0101
Thioredoxin reductase 30101
Sortase A0101
Histone deacetylase 70101
GABA theta subunit4116
Histone deacetylase 20202
CREB-binding protein0101
Sarcoplasmic/endoplasmic reticulum calcium ATPase 30202
Cysteine protease 0101
Polyamine deacetylase HDAC100101
Histone deacetylase 11 0101
NACHT, LRR and PYD domains-containing protein 3 0101
Histone deacetylase 80202
Gamma-aminobutyric acid receptor subunit epsilon4116
Thioredoxin reductase 2, mitochondrial0101
CDGSH iron-sulfur domain-containing protein 10202
Histone deacetylase 60101
Histone deacetylase 90101
Broad substrate specificity ATP-binding cassette transporter ABCG20101
Histone deacetylase 50101
Lymphocyte antigen 960011
Beta lactamase (plasmid)0101
67.9K protein4004
Thymidine kinase, cytosolic0102
Deoxycytidine kinase0001
AAA family ATPase 0001
Sterol O-acyltransferase 10101
Chain A, Sex Hormone-Binding Globulin0011
glp-1 receptor, partial3003
Plasma kallikrein0101
Sex hormone-binding globulin0112
Corticosteroid-binding globulin0101
Mineralocorticoid receptor 0304
Sex hormone-binding globulin0101
Aromatase0203
Angiotensin-converting enzyme0011
Cannabinoid receptor 20101
G-protein coupled bile acid receptor 10011
Muscarinic acetylcholine receptor0101
Neuropeptide FF receptor 20001
3-oxo-5-alpha-steroid 4-dehydrogenase 10101
Glycine receptor subunit alpha-10011
3-oxo-5-alpha-steroid 4-dehydrogenase 20101
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase0101
endonuclease IV1001
nonstructural protein 11001
G1001
alpha-galactosidase1001
peripheral myelin protein 22 isoform 13003
cytochrome P450 2C9 precursor1001
D(1A) dopamine receptor3003
nuclear factor erythroid 2-related factor 2 isoform 22002
survival motor neuron protein isoform d1001
M-phase phosphoprotein 82002
Cocaine esterase0102
Bile salt export pump0202
Interferon beta1001
HLA class I histocompatibility antigen, B alpha chain 1001
Arylacetamide deacetylase0001
5-hydroxytryptamine receptor 60415
Spike glycoprotein2002
Inositol hexakisphosphate kinase 11001
Arylacetamide deacetylase0001
Arylacetamide deacetylase0001
cytochrome P450 2C9, partial1001
Chain A, Glutamine Binding Protein0011
Neutral amino acid transporter A0101
Asc-type amino acid transporter 10101
Neutral amino acid transporter B(0)0101
Amino acid transporter0101
cytochrome P450 family 3 subfamily A polypeptide 42002
Gonadotropin-releasing hormone receptor0101
Gonadotropin-releasing hormone receptor0202
ClpP1001
cytochrome P450 2D6 isoform 11001
ras-related protein Rab-9A1001
Cytochrome P450 1A10101
Cytochrome P450 1A2 0101
Myeloperoxidase0101
Cytochrome P450 1A20202
Cytochrome P450 2C11 0101
Cytochrome P450 2D60404
Ribosyldihydronicotinamide dehydrogenase [quinone]0202
Metabotropic glutamate receptor 10101
Acetylcholinesterase 0101
Mu-type opioid receptor0101
Nociceptin receptor0101
Melatonin receptor type 1A0213
Melatonin receptor type 1C0011
Melatonin receptor type 1A0112
Melatonin receptor type 1B0213
Melatonin receptor type 1C0112
Melatonin receptor type 1B0112
Cytochrome P450 1B10101
Palmitoleoyl-protein carboxylesterase NOTUM0101
Carboxylic ester hydrolase 0101
Histamine H3 receptor0101
Potassium channel subfamily K member 30101
Voltage-dependent L-type calcium channel subunit alpha-1F0101
Potassium channel subfamily K member 20202
Sodium channel protein type 1 subunit alpha0101
Sodium channel protein type 2 subunit alpha0101
Sodium channel protein type 3 subunit alpha0101
Cytochrome P450 2C9 0202
Sodium channel protein type 1 subunit alpha0101
Sodium channel protein type 4 subunit alpha0101
5-hydroxytryptamine receptor 2B0415
Cytochrome P450 2J20202
Sodium channel protein type 7 subunit alpha0101
Voltage-dependent L-type calcium channel subunit alpha-1D 0101
Potassium voltage-gated channel subfamily H member 20202
Voltage-dependent L-type calcium channel subunit alpha-1S0101
Voltage-dependent L-type calcium channel subunit alpha-1C0202
Sodium channel protein type 5 subunit alpha0202
Sodium channel protein type 9 subunit alpha0202
Sodium channel protein type 2 subunit alpha0101
Sodium channel protein type 3 subunit alpha0101
Sodium channel protein type 11 subunit alpha0101
Sodium channel protein type 8 subunit alpha0101
Sodium channel protein type 10 subunit alpha0101
Solute carrier family 22 member 200101
Solute carrier family 22 member 60101
Rap guanine nucleotide exchange factor 41001
Chain B, Exotoxin A0011
Chain B, Exotoxin A0011
Chain B, Exotoxin A0011
Beta-1 adrenergic receptor 0113
Voltage-dependent L-type calcium channel subunit alpha-1C0101
5-hydroxytryptamine receptor 40202
Albumin0022
Muscarinic acetylcholine receptor M20112
ATP-dependent translocase ABCB10506
Cytochrome P450 3A40101
5-hydroxytryptamine receptor 1A0101
Alpha-2A adrenergic receptor0124
Adenosine receptor A30112
Beta-2 adrenergic receptor0203
Cytochrome P450 2C80101
Muscarinic acetylcholine receptor M10112
Beta-3 adrenergic receptor0213
D(2) dopamine receptor0112
Alpha-2B adrenergic receptor0012
Beta-1 adrenergic receptor0214
Alpha-2C adrenergic receptor0124
D(3) dopamine receptor0101
Alpha-2B adrenergic receptor0011
Muscarinic acetylcholine receptor M30112
D(1A) dopamine receptor0112
Alpha-2C adrenergic receptor0011
Alpha-2A adrenergic receptor0011
Alpha-1D adrenergic receptor0012
Endothelin-1 receptor0112
Beta-3 adrenergic receptor0202
5-hydroxytryptamine receptor 1B0213
5-hydroxytryptamine receptor 2A0213
5-hydroxytryptamine receptor 2C0213
Adenosine receptor A2a0112
Neuromedin-K receptor0011
Type-1 angiotensin II receptor0112
Sodium-dependent serotonin transporter0202
Cholecystokinin receptor type A0112
Cytochrome P450 2C190202
5-hydroxytryptamine receptor 70112
Beta-1 adrenergic receptor0101
Alpha-1A adrenergic receptor0124
Alpha-1B adrenergic receptor0012
Mu-type opioid receptor0112
Vasopressin V1a receptor0112
Delta-type opioid receptor0112
Kappa-type opioid receptor0112
5-hydroxytryptamine receptor 70202
Beta-2 adrenergic receptor0101
Sigma non-opioid intracellular receptor 10202
Nuclear receptor subfamily 2 group E member 10022
Solute carrier organic anion transporter family member 1A40101
Histidine-rich protein PFHRP-II0101
Cytochrome P450 2D10101
Cytochrome P450 2D260101
Cytochrome P450 2D30101
Solute carrier organic anion transporter family member 1A10101
Cytochrome P450 2D40101
Chain A, Mineralocorticoid receptor0101
Chain A, Mineralocorticoid receptor0101
parathyroid hormone/parathyroid hormone-related peptide receptor precursor1001
Vpr1001
Glycine receptor subunit alpha-10202
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Sodium-dependent serotonin transporter0101
Estrogen receptor beta0112
Multidrug and toxin extrusion protein 10101
Chain A, X-ray structure of the sucrose-phosphatase (SPP) from Synechocystis sp.PCC6803 in complex with trehalose0101
Chain A, X-ray structure of the sucrose-phosphatase (SPP) from Synechocystis sp.PCC6803 in complex with cellobiose0101
Chain A, X-ray structure of the sucrose-phosphatase (SPP) from Synechocystis sp.PCC6803 in complex with maltose0101
Trehalose-phosphatase0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]