Ataxia with Lactic Acidosis 2

An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)

Synonym
Pyruvate Carboxylase Deficiency Disease
Ataxia with Lactic Acidosis, Type II
Ataxia with Lactic Acidosis II
Deficiency Disease, Pyruvate Carboxylase
Type II Ataxia with Lactic Acidosis
Pyruvate Carboxylase Deficiency
Ataxia with Lactic Acidosis 2
Lactic Acidosis with Ataxia, Type II

Excerpt	Reference
"Isolated pyruvate carboxylase deficiency is reviewed in detail with a report of a recent case and a discussion of the biochemical consequences."	( Alberti, KG; Bartlett, K; Dale, G; Ghneim, HK; Stirk, JH, 1984)

Excerpt	Reference
"Pyruvate carboxylase deficiency has three clinical phenotypes."	( De Meirleir, L, 2013)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	62 (73.81)	23.3326
1990's	11 (13.10)	12.5806
2000's	4 (4.76)	18.1394
2010's	5 (5.95)	28.8240
2020's	2 (2.38)	9.53

Drug	Relationship Strength	Studies
gamma-aminobutyric acid	low	2
ammonium hydroxide	low	4
carnitine	low	1
citric acid, anhydrous	low	1
methylmalonic acid	low	1
malic acid	low	1
lactic acid	low	14
glycine	low	1
hydrogen carbonate	low	1
thioctic acid	low	2
oxaloacetic acid	low	1
propionic acid	low	1
pyridoxine	low	1
pyruvic acid	low	7
thiamine	low	5
urea	low	2
valproic acid	low	1
alanine	low	4
aspartic acid	low	3
glutamine	low	3
lysine	low	1
galactose	low	2
methylene blue	low	1
leucine	low	2
methionine	low	1
arginine	low	1
thiamine pyrophosphate	low	1
citrulline	low	3
2-chloropropionic acid	low	1
glutamic acid	low	1
hydracrylic acid	low	1
triheptanoin	low	2
beta-hydroxyisovaleric acid	low	3
coenzyme a	low	1
propionyl-coenzyme a	low	2
valerates	low	3
beta-methylcrotonylglycine	low	1
biotin	medium	45
glycogen	low	3
acetyl coenzyme a	low	1
riboflavin	low	1
linoleic acid	low	1
fumarates	low	1
oxalates	low	1
vitamin b 12	low	1
folic acid	low	1

Protein Targets (574)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
GLI family zinc finger 3	7	0	0	7
farnesoid X nuclear receptor	6	0	0	6
estrogen nuclear receptor alpha	13	0	0	13
thyroid hormone receptor beta isoform 2	4	0	0	4
N-alpha-acetyltransferase 50	0	0	2	2
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	8	0	0	8
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	9	0	0	9
Carbonic anhydrase 1	0	2	0	6
Carbonic anhydrase 2	0	2	0	6
Alanine racemase, biosynthetic	0	0	0	1
5-hydroxytryptamine receptor 1D	0	0	0	2
Glutamate receptor ionotropic, NMDA 1	0	6	2	8
Proton-coupled amino acid transporter 1	0	4	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	4	0	0	4
NFKB1 protein, partial	1	0	0	1
GLS protein	3	0	0	3
thyroid stimulating hormone receptor	5	0	0	5
alpha-galactosidase	2	0	0	2
euchromatic histone-lysine N-methyltransferase 2	9	0	0	9
cytochrome P450 2C19 precursor	2	0	0	2
chromobox protein homolog 1	3	0	0	3
flap endonuclease 1	3	0	0	3
DNA polymerase iota isoform a (long)	3	0	0	3
muscarinic acetylcholine receptor M1	1	0	0	1
lethal factor (plasmid)	4	0	0	4
Cytochrome P450 3A4	0	0	0	1
Nitric oxide synthase, endothelial	0	0	0	2
Nitric oxide synthase, brain	0	1	0	2
Nitric oxide synthase, brain	0	1	0	2
Nitric oxide synthase, inducible	0	0	0	1
Nitric oxide synthase, inducible	0	0	1	3
Cationic amino acid transporter 3	0	2	0	2
ATP-dependent phosphofructokinase	4	0	0	4
Chain A, Ferritin light chain	4	0	0	4
aldehyde dehydrogenase 1 family, member A1	8	0	0	8
arylsulfatase A	3	0	0	3
Bloom syndrome protein isoform 1	5	0	0	5
lamin isoform A-delta10	5	0	0	5
Metabotropic glutamate receptor 6	0	1	2	4
Excitatory amino acid transporter 4	0	2	0	2
Glutamate transporter homolog	0	0	1	1
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	0	1	0	1
Excitatory amino acid transporter 1	0	3	0	4
Excitatory amino acid transporter 2	0	3	0	4
Excitatory amino acid transporter 3	0	3	0	4
Glutamate receptor ionotropic, NMDA 2A	0	5	2	7
Glutamate receptor ionotropic, NMDA 2B	0	5	2	7
Glutamate receptor ionotropic, NMDA 2C	0	5	2	7
Metabotropic glutamate receptor 1	0	1	2	4
Metabotropic glutamate receptor 2	0	1	2	4
Carbonic anhydrase-like protein, putative	0	0	0	3
Glutamate receptor ionotropic, NMDA 2D	0	5	2	7
Glutamate receptor ionotropic, NMDA 3B	0	5	2	7
Glutamate receptor ionotropic, NMDA 3A	0	5	2	7
Chain A, Avidin	0	0	1	1
Chain A, Protein (streptavidin)	0	0	1	1
Chain B, Protein (streptavidin)	0	0	1	1
Chain A, Streptavidin	0	0	1	1
Chain D, Streptavidin	0	0	1	1
Chain A, Streptavidin	0	0	1	1
Chain D, Streptavidin	0	0	1	1
Chain A, Streptavidin	0	0	1	1
Chain D, Streptavidin	0	0	1	1
Chain A, Streptavidin Complex With Biotin	0	0	1	1
Chain D, Circularly Permuted Core-streptavidin E51/a46	0	0	1	1
Chain A, Core-streptavidin	0	0	1	1
Chain D, Core-streptavidin	0	0	1	1
Chain A, Core-streptavidin	0	0	1	1
Chain D, Core-streptavidin	0	0	1	1
Chain A, Core-streptavidin	0	0	1	1
Chain D, Core-streptavidin	0	0	1	1
Chain A, Core-streptavidin	0	0	1	1
Chain D, Core-streptavidin	0	0	1	1
Chain A, Avidin	0	0	1	1
Chain A, Streptavidin	0	0	1	1
Chain B, Streptavidin	0	0	1	1
Chain A, Streptavidin	0	0	1	1
Chain B, Streptavidin	0	0	1	1
Chain A, JmjC domain-containing histone demethylation protein 3A	5	0	0	5
RAR-related orphan receptor gamma	7	0	0	7
apical membrane antigen 1, AMA1	1	0	0	1
nonstructural protein 1	0	1	0	1
green fluorescent protein, partial	0	1	0	1
vitamin D3 receptor isoform VDRA	1	0	0	1
insulin-degrading enzyme isoform 1	0	0	1	1
Streptavidin	0	0	1	1
Receptor-type tyrosine-protein phosphatase beta	0	0	0	1
Solute carrier family 22 member 5	0	0	0	1
Solute carrier family 22 member 5	0	0	0	1
Bile salt export pump	0	4	0	4
Solute carrier family 22 member 16	0	0	0	1
Solute carrier family 22 member 21	0	0	0	1
Solute carrier family 22 member 5	0	0	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, Proto-oncogene Tyrosine-protein Kinase Src	0	1	0	1
Chain A, N5-carboxyaminoimidazole ribonucleotide mutase	0	0	1	1
Chain B, N5-carboxyaminoimidazole ribonucleotide mutase	0	0	1	1
Chain A, N5-carboxyaminoimidazole ribonucleotide mutase	0	0	1	1
Chain B, N5-carboxyaminoimidazole ribonucleotide mutase	0	0	1	1
nuclear receptor subfamily 1, group I, member 3	5	0	0	5
glucocorticoid receptor [Homo sapiens]	5	0	0	5
peroxisome proliferator activated receptor gamma	6	0	0	6
hepatocyte nuclear factor 4-alpha isoform 2	0	1	0	1
perilipin-5	0	1	0	1
thyroid hormone receptor beta isoform a	6	0	0	6
perilipin-1	0	1	0	1
nuclear factor erythroid 2-related factor 2 isoform 1	9	0	0	9
1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a	0	1	0	1
Beta-lactamase	0	1	0	1
Proto-oncogene tyrosine-protein kinase Src	0	1	0	1
3-dehydroquinate dehydratase	0	0	1	1
ATP-citrate synthase	0	1	0	2
Ribonuclease T	0	0	0	1
Cell death-related nuclease 4	0	0	0	1
3-dehydroquinate dehydratase	0	0	1	1
Prolyl 4-hydroxylase	0	4	0	4
Alpha-ketoglutarate-dependent dioxygenase FTO	0	4	0	4
N(G),N(G)-dimethylarginine dimethylaminohydrolase 1	0	1	0	1
General amino-acid permease GAP1	0	0	0	1
Choline O-acetyltransferase	0	1	0	1
Histone acetyltransferase p300	0	1	0	1
Histone acetyltransferase KAT2B	0	1	0	1
Histone acetyltransferase KAT5	0	1	0	1
Chain A, Dihydrofolate reductase	0	0	1	1
Chain A, Putative fructose-1,6-bisphosphate aldolase	2	0	0	2
Chain A, HADH2 protein	5	0	0	5
Chain B, HADH2 protein	5	0	0	5
Chain A, 2-oxoglutarate Oxygenase	3	0	0	3
acid sphingomyelinase	1	0	0	1
glp-1 receptor, partial	3	0	0	3
USP1 protein, partial	3	0	0	3
AR protein	11	0	0	11
retinoid X nuclear receptor alpha	6	0	0	6
estrogen-related nuclear receptor alpha	7	0	0	7
glucocerebrosidase	1	0	0	1
vitamin D (1,25- dihydroxyvitamin D3) receptor	3	0	0	3
activating transcription factor 6	5	0	0	5
lysosomal alpha-glucosidase preproprotein	1	0	0	1
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 1	4	0	0	4
nuclear factor erythroid 2-related factor 2 isoform 2	3	0	0	3
DNA polymerase beta	3	0	0	3
Multidrug resistance-associated protein 4	0	0	0	1
Cellular tumor antigen p53	7	0	0	7
Thymidylate synthase	0	2	0	2
Thymidylate synthase	0	1	0	1
Dihydrofolate reductase	0	0	1	1
Aldo-keto reductase family 1 member B1	0	2	0	2
Alpha-synuclein	2	0	0	2
Folylpolyglutamate synthase, mitochondrial	0	0	0	1
Solute carrier organic anion transporter family member 1A3	0	1	0	1
Folylpolyglutamate synthase, mitochondrial	0	0	0	1
Multidrug resistance associated protein	0	0	0	1
IDH1	2	0	0	2
importin subunit beta-1 isoform 1	2	0	0	2
snurportin-1	2	0	0	2
DNA polymerase kappa isoform 1	3	0	0	3
histone acetyltransferase KAT2A isoform 1	4	0	0	4
Beta-galactosidase	0	1	0	1
Lipopolysaccharide heptosyltransferase 1	0	1	0	1
PA-I galactophilic lectin	0	0	1	1
Jacalin	0	0	1	1
Gamma-aminobutyric acid	0	0	1	1
Gamma-aminobutyric acid receptor subunit rho-3	0	0	1	1
ATAD5 protein, partial	2	0	0	2
Hsf1 protein	0	0	1	1
regulator of G-protein signaling 4	2	0	0	2
bromodomain adjacent to zinc finger domain 2B	4	0	0	4
D(1A) dopamine receptor	1	0	0	1
transcriptional regulator ERG isoform 3	1	0	0	1
histone-lysine N-methyltransferase 2A isoform 2 precursor	3	0	0	3
geminin	5	0	0	5
peripheral myelin protein 22	1	0	0	1
neuropeptide S receptor isoform A	2	0	0	2
Gamma-aminobutyric acid receptor subunit pi	0	1	0	1
Gamma-aminobutyric acid receptor subunit pi	2	2	0	4
Gamma-aminobutyric acid receptor subunit delta	0	1	0	1
Histone deacetylase 3	0	3	0	3
Gamma-aminobutyric acid type B receptor subunit 2	0	0	1	1
Gamma-aminobutyric acid type B receptor subunit 2	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-1	0	1	1	2
Gamma-aminobutyric acid receptor subunit beta-1	2	2	0	4
Gamma-aminobutyric acid receptor subunit alpha-6	0	0	1	1
Gamma-aminobutyric acid receptor subunit beta-1	0	1	1	2
Gamma-aminobutyric acid receptor subunit delta	2	2	0	4
Gamma-aminobutyric acid receptor subunit gamma-2	0	1	1	2
Gamma-aminobutyric acid receptor subunit gamma-2	2	2	1	5
Gamma-aminobutyric acid receptor subunit alpha-5	2	2	0	4
Gamma-aminobutyric acid receptor subunit alpha-3	2	2	0	4
Gamma-aminobutyric acid receptor subunit gamma-2	0	0	1	1
Gamma-aminobutyric acid receptor subunit delta	0	0	1	1
Gamma-aminobutyric acid receptor subunit gamma-1	2	2	0	4
Gamma-aminobutyric acid receptor subunit alpha-2	2	2	0	4
Sodium- and chloride-dependent GABA transporter 1	0	1	0	1
Gamma-aminobutyric acid receptor subunit rho-1	0	0	2	2
Gamma-aminobutyric acid receptor subunit alpha-2	0	0	1	1
Gamma-aminobutyric acid receptor subunit alpha-3	0	0	1	1
Gamma-aminobutyric acid receptor subunit gamma-3	0	0	1	1
Gamma-aminobutyric acid receptor subunit alpha-4	2	2	0	4
Gamma-aminobutyric acid receptor subunit beta-3	0	1	1	2
Gamma-aminobutyric acid receptor subunit gamma-3	2	2	0	4
Gamma-aminobutyric acid receptor subunit rho-2	0	0	1	1
Gamma-aminobutyric acid receptor subunit alpha-6	2	2	0	4
Sodium- and chloride-dependent GABA transporter 1	0	1	0	1
Sodium- and chloride-dependent taurine transporter	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-5	0	1	1	2
Sodium- and chloride-dependent GABA transporter 2	0	1	0	1
Sodium- and chloride-dependent GABA transporter 3	0	1	0	1
Sodium- and chloride-dependent GABA transporter 1	0	1	0	1
Sodium- and chloride-dependent GABA transporter 2	0	2	0	2
Sodium- and chloride-dependent GABA transporter 3	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-3	0	1	1	2
Gamma-aminobutyric acid receptor subunit alpha-2	0	1	1	2
Gamma-aminobutyric acid receptor subunit beta-2	0	1	1	2
Sodium- and chloride-dependent betaine transporter	0	1	0	1
Sodium- and chloride-dependent betaine transporter	0	1	0	1
Sodium- and chloride-dependent GABA transporter 3	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-4	0	1	1	2
Gamma-aminobutyric acid receptor subunit beta-1	0	0	1	1
Histone deacetylase 4	0	3	0	3
Gamma-aminobutyric acid receptor subunit alpha-1	0	0	1	1
Gamma-aminobutyric acid receptor subunit alpha-1	2	2	1	5
Gamma-aminobutyric acid receptor subunit beta-3	2	2	0	4
Gamma-aminobutyric acid receptor subunit beta-3	0	0	1	1
Gamma-aminobutyric acid receptor subunit beta-2	2	2	1	5
Gamma-aminobutyric acid receptor subunit epsilon	0	1	0	1
4-aminobutyrate aminotransferase, mitochondrial	0	0	0	1
4-aminobutyrate aminotransferase, mitochondrial	0	0	0	1
TAR DNA-binding protein 43	3	0	0	3
Histone deacetylase 1	0	3	0	3
Gamma-aminobutyric acid receptor subunit alpha-6	0	1	1	2
Sterol O-acyltransferase 1	0	0	1	1
Gamma-aminobutyric acid receptor subunit alpha-5	0	0	1	1
Gamma-aminobutyric acid receptor subunit gamma-1	0	1	0	1
Gamma-aminobutyric acid receptor subunit pi	0	0	1	1
Histone deacetylase 7	0	3	0	3
GABA theta subunit	2	2	0	4
Histone deacetylase 2	0	3	0	3
Polyamine deacetylase HDAC10	0	3	0	3
Histone deacetylase 11	0	3	0	3
Gamma-aminobutyric acid receptor subunit gamma-3	0	1	0	1
Histone deacetylase 8	0	3	0	3
Gamma-aminobutyric acid receptor subunit alpha-4	0	0	1	1
Gamma-aminobutyric acid receptor subunit epsilon	2	2	0	4
Platelet glycoprotein VI	0	0	1	1
Gamma-aminobutyric acid receptor subunit theta	0	0	1	1
Sodium- and chloride-dependent GABA transporter 2	0	1	0	1
Gamma-aminobutyric acid receptor subunit gamma-1	0	0	1	1
Histone deacetylase 6	0	3	0	3
Gamma-aminobutyric acid type B receptor subunit 1	0	0	1	1
Histone deacetylase 9	0	3	0	3
Gamma-aminobutyric acid receptor subunit theta	0	1	0	1
Histone deacetylase 5	0	3	0	3
Gamma-aminobutyric acid type B receptor subunit 1	0	1	0	1
Chain A, GLUTAMATE RECEPTOR SUBUNIT 2	0	1	0	1
Chain A, Glutamate Receptor Subunit 2	0	1	0	1
Chain B, Glutamate Receptor Subunit 2	0	1	0	1
Chain A, Slr1257 protein	0	0	1	1
Chain A, Glucosamine--fructose-6-phosphate aminotransferase [isomerizing]	0	1	0	1
TDP1 protein	3	0	0	3
beta-2 adrenergic receptor	1	0	0	1
peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	3	0	0	3
Metabotropic glutamate receptor 8	0	2	0	2
Glutamate receptor ionotropic, NMDA 2D	0	1	0	1
Glutamate receptor ionotropic, NMDA 3B	0	1	0	1
Glutathione reductase, mitochondrial	0	5	0	6
Bifunctional aspartokinase/homoserine dehydrogenase 1	0	1	0	1
Prothrombin	0	0	1	1
Integrin beta-3	1	0	1	2
Integrin alpha-IIb	1	0	1	2
Glutamate receptor 1	1	2	1	4
Glutamate receptor 2	2	2	1	5
Glutamate receptor 3	1	2	1	4
Glutamate receptor 4	1	2	1	4
Glutamate receptor ionotropic, kainate 1	0	2	1	3
Metabotropic glutamate receptor 1	0	1	1	2
Metabotropic glutamate receptor 2	0	0	1	1
Metabotropic glutamate receptor 3	0	0	1	1
Metabotropic glutamate receptor 4	0	1	1	2
Metabotropic glutamate receptor 5	0	0	1	1
Metabotropic glutamate receptor 6	0	0	1	1
Metabotropic glutamate receptor 7	0	0	1	1
Glutamate receptor ionotropic, kainate 1	0	1	1	2
Metabotropic glutamate receptor 5	0	1	1	3
Glutamate receptor ionotropic, kainate 2	0	2	1	3
Glutamate receptor 1	0	2	1	3
Glutamate receptor 2	0	2	1	3
Glutamate receptor 3	0	1	1	2
Glutamate receptor ionotropic, kainate 3	0	2	0	2
Metabotropic glutamate receptor 8	0	0	1	1
Glutamate receptor 4	0	2	1	3
Excitatory amino acid transporter 3	0	0	0	1
Glutamate racemase	0	0	0	1
Metabotropic glutamate receptor 8	0	1	1	2
Fatty-acid amide hydrolase 1	0	1	0	1
Glutamate receptor ionotropic, kainate 4	0	2	0	2
Glutamate carboxypeptidase 2	0	1	0	1
Glutamate receptor ionotropic, NMDA 1	0	1	0	1
Glutamate receptor ionotropic, NMDA 2A	0	1	0	1
Glutamate receptor ionotropic, kainate 2	0	1	1	2
Glutamate receptor ionotropic, kainate 3	0	1	0	1
Glutamate receptor ionotropic, NMDA 2B	0	1	0	1
Metabotropic glutamate receptor 7	0	1	1	3
Metabotropic glutamate receptor 3	0	1	1	3
Metabotropic glutamate receptor 4	0	1	1	3
Glutamate receptor ionotropic, NMDA 2C	0	1	0	1
Glutamate receptor ionotropic, kainate 5	0	1	0	1
Glutamate receptor ionotropic, kainate 5	0	2	0	2
Glutamate racemase	0	0	0	1
Glutamate receptor ionotropic, NMDA 3A	0	1	0	1
Chain A, Glutamine Binding Protein	0	0	1	1
15-lipoxygenase, partial	3	0	0	3
peripheral myelin protein 22 isoform 1	1	0	0	1
Neutral amino acid transporter A	0	1	0	1
Asc-type amino acid transporter 1	0	1	0	1
Neutral amino acid transporter B(0)	0	1	0	1
Amino acid transporter	0	1	0	1
Glycine receptor subunit alpha-1	0	0	1	1
Sodium- and chloride-dependent glycine transporter 1	0	1	0	1
Large neutral amino acids transporter small subunit 1	0	3	0	3
Serine racemase	0	1	0	1
Olfactory receptor 51E2	0	0	2	2
Sodium- and chloride-dependent glycine transporter 2	0	1	0	1
Carbonic anhydrase 4	0	1	0	1
Carbonic anhydrase	0	1	0	1
Carbonic anhydrase 15	0	1	0	1
acetylcholinesterase	5	0	0	5
estrogen receptor 2 (ER beta)	4	0	0	4
cytochrome P450 family 3 subfamily A polypeptide 4	4	0	0	4
retinoic acid nuclear receptor alpha variant 1	10	0	0	10
cytochrome P450 2D6	3	0	0	3
thyroid stimulating hormone receptor	3	0	0	3
v-jun sarcoma virus 17 oncogene homolog (avian)	7	0	0	7
cellular tumor antigen p53 isoform a	1	0	0	1
Chain A, AMINOPEPTIDASE	0	1	0	1
Chain A, AMINOPEPTIDASE	0	1	0	1
Chain A, Leucine Aminopeptidase	0	1	0	1
Alkaline phosphatase, tissue-nonspecific isozyme	0	1	0	1
Intestinal-type alkaline phosphatase	0	1	0	1
Phospholipase A-2-activating protein	0	1	0	1
Luciferase	3	0	0	3
hypoxia-inducible factor 1 alpha subunit	3	0	0	3
SMAD family member 2	4	0	0	4
SMAD family member 3	4	0	0	4
caspase 7, apoptosis-related cysteine protease	3	0	0	3
progesterone receptor	5	0	0	5
pregnane X nuclear receptor	6	0	0	6
peroxisome proliferator-activated receptor delta	5	0	0	5
caspase-3	3	0	0	3
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	3	0	0	3
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a	3	0	0	3
heat shock protein beta-1	3	0	0	3
cytochrome P450 3A4 isoform 1	2	0	0	2
Free fatty acid receptor 1	0	0	1	1
Prostaglandin G/H synthase 1	0	1	0	1
Sterol O-acyltransferase 1	0	1	0	1
Trypsin	0	1	0	1
Fatty acid-binding protein, heart	0	2	0	2
Seed linoleate 13S-lipoxygenase-1	0	1	0	1
Coagulation factor VII	0	1	0	1
Aromatase	0	1	0	1
Tissue factor	0	2	0	2
Fatty acid-binding protein, adipocyte	0	2	0	2
Prostaglandin G/H synthase 1	0	1	0	1
Adenosine receptor A1	0	1	0	1
Tyrosine-protein phosphatase non-receptor type 7	0	1	0	1
Sterol O-acyltransferase 1	0	1	0	1
Aldo-keto reductase family 1 member C3	0	1	0	1
Nuclear receptor subfamily 4 group A member 2	0	0	1	1
Dual specificity protein phosphatase 3	0	1	0	1
Prostaglandin G/H synthase 2	0	1	0	1
Fatty acid-binding protein 5	0	1	0	1
Peroxisome proliferator-activated receptor alpha	1	0	0	1
Free fatty acid receptor 4	0	0	1	1
Chain A, Ribulose-1,5 bisphosphate carboxylase/oxygenase large subunit N-methyltransferase, chloroplast	0	1	0	1
Chain A, Ribulose-1,5 bisphosphate carboxylase/oxygenase large subunit N-methyltransferase, chloroplast	0	1	0	1
potassium voltage-gated channel subfamily H member 2 isoform d	3	0	0	3
Chain A, Beta-lactamase	3	0	0	3
parathyroid hormone/parathyroid hormone-related peptide receptor precursor	2	0	0	2
Methyl-accepting chemotaxis protein NahY	0	0	2	2
Chain A, Methionyl-tRNA synthetase	0	0	1	1
Chain A, Methionyl-tRNA synthetase	0	0	1	1
Chain A, Aminopeptidase	0	1	0	1
Chain A, Methionine aminopeptidase	0	1	0	1
S-ribosylhomocysteine lyase	0	1	0	1
Adenylate cyclase type 5	0	0	0	1
S-adenosylmethionine synthase isoform type-1	0	0	0	1
S-adenosylmethionine synthase isoform type-2	0	0	0	1
Fatty acid synthase	0	1	0	1
Chain E, Fibrin beta chain	0	1	0	1
Chain A, ATP-DEPENDENT DNA HELICASE Q1	3	0	0	3
T cell receptor, partial	1	0	0	1
luteinizing hormone receptor	1	0	0	1
integrase, partial	0	1	0	1
chaperonin-containing TCP-1 beta subunit homolog	1	0	0	1
lens epithelium-derived growth factor p75	0	1	0	1
Caspase 6, apoptosis-related cysteine peptidase	0	0	0	1
Fumarate hydratase	1	0	0	1
PPM1D protein	1	0	0	1
Microtubule-associated protein tau	1	0	0	1
TSHR protein	1	0	0	1
Apoptotic peptidase activating factor 1	0	1	0	1
thioredoxin glutathione reductase	1	0	0	1
Smad3	1	0	0	1
hypothetical protein, conserved	1	0	0	1
isocitrate dehydrogenase 1, partial	1	0	0	1
G	1	0	0	1
polyprotein	1	0	0	1
luciferase	1	0	0	1
aryl hydrocarbon receptor	2	0	0	2
Histone H2A.x	2	0	0	2
serine-protein kinase ATM isoform a	1	0	0	1
neutrophil cytosol factor 1	0	1	0	1
caspase-9 isoform alpha precursor	0	1	0	1
histone deacetylase 9 isoform 3	2	0	0	2
huntingtin isoform 2	1	0	0	1
pyruvate kinase PKM isoform a	1	0	0	1
mitogen-activated protein kinase 1	2	0	0	2
caspase-3 isoform a preproprotein	0	1	0	1
protein AF-9 isoform a	0	0	0	1
DNA polymerase eta isoform 1	1	0	0	1
urokinase-type plasminogen activator precursor	1	0	0	1
plasminogen precursor	1	0	0	1
urokinase plasminogen activator surface receptor precursor	1	0	0	1
Vpr	1	0	0	1
survival motor neuron protein isoform d	1	0	0	1
muscleblind-like protein 1 isoform 1	1	0	0	1
replicative DNA helicase	0	0	0	1
recombinase A	0	0	1	1
POsterior Segregation	0	0	1	1
DNA repair protein RAD52 homolog isoform a	0	0	0	1
Glutathione reductase	0	1	0	1
Voltage-dependent calcium channel gamma-2 subunit	1	0	0	1
Glycoprotein hormones alpha chain	1	0	0	1
Interferon beta	1	0	0	1
HLA class I histocompatibility antigen, B alpha chain	1	0	0	1
Albumin	0	0	0	1
Amyloid-beta precursor protein	0	1	0	1
Dihydrolipoyl dehydrogenase, mitochondrial	0	1	0	2
Microtubule-associated protein tau	0	1	1	2
Alpha-1B adrenergic receptor	0	1	0	1
Amine oxidase [flavin-containing] A	0	1	0	1
Alpha-1D adrenergic receptor	0	1	0	1
Sodium-dependent noradrenaline transporter	0	0	1	1
Cruzipain	0	1	0	1
Alpha-1A adrenergic receptor	0	1	0	1
Spike glycoprotein	2	0	0	2
Guanine nucleotide-binding protein G	2	0	0	2
Inositol monophosphatase 1	2	0	0	2
Thioredoxin reductase 1, cytoplasmic	0	1	0	2
Dihydrolipoyl dehydrogenase	0	1	0	2
Inositol hexakisphosphate kinase 1	1	0	0	1
ATPase family AAA domain-containing protein 5	2	0	0	2
Ataxin-2	2	0	0	2
Zinc finger protein mex-5	0	0	1	1
cytochrome P450 2C9, partial	1	0	0	1
phosphoglycerate kinase	1	0	0	1
tumor susceptibility gene 101 protein	1	0	0	1
GTP-binding nuclear protein Ran isoform 1	1	0	0	1
Serine racemase	0	1	0	1
Chain A, CITRATE SYNTHASE	0	0	1	1
Chain B, CITRATE SYNTHASE	0	0	1	1
Phosphoenolpyruvate carboxykinase, cytosolic [GTP]	0	1	0	1
Free fatty acid receptor 3	0	0	1	1
Free fatty acid receptor 2	0	1	1	2
Solute carrier family 22 member 20	0	2	0	2
Solute carrier family 22 member 6	0	2	0	2
Free fatty acid receptor 2	0	0	1	1
Pyridoxal kinase	0	0	0	1
Bile salt export pump	0	2	0	2
Monocarboxylate transporter 4	0	0	0	1
Monocarboxylate transporter 2	0	0	0	1
Monocarboxylate transporter 1	0	0	0	1
C-terminal-binding protein 2	0	1	0	1
Monocarboxylate transporter 2	0	1	0	1
Solute carrier organic anion transporter family member 2A1	0	1	0	1
Chain A, 6,7-Dimethyl-8-ribityllumazine Synthase	0	0	1	1
Chain B, 6,7-Dimethyl-8-ribityllumazine Synthase	0	0	1	1
Chain A, Breast cancer type 1 susceptibility protein	1	0	0	1
Chain H, Immunoglobulin Igg1 Heavy chain	0	0	1	1
Chain L, Immunoglobulin Igg1 Lambda Light Chain	0	0	1	1
Chain A, DODECIN	0	0	1	1
Chain A, DODECIN	0	0	1	1
Chain C, DODECIN	0	0	1	1
Chain E, DODECIN	0	0	1	1
NPYLR7B	0	0	1	1
thyrotropin-releasing hormone receptor	1	0	0	1
tumor necrosis factor	1	0	0	1
nuclear factor NF-kappa-B p105 subunit isoform 1	1	0	0	1
caspase-1 isoform alpha precursor	1	0	0	1
Riboflavin-binding protein	0	1	1	2
60 kDa chaperonin	0	1	0	1
60 kDa heat shock protein, mitochondrial	0	1	0	1
Caspase-7	1	0	0	1
10 kDa heat shock protein, mitochondrial	0	1	0	1
Thiosulfate sulfurtransferase	0	1	0	1
60 kDa chaperonin	0	1	0	1
10 kDa chaperonin	0	1	0	1
Chain A, ykoF	0	0	1	1
Chain B, ykoF	0	0	1	1
Chain A, ThiT	0	0	1	1
Thiamine transporter ThiT	0	0	1	1
Solute carrier family 22 member 1	0	1	0	2
Carbonic anhydrase 6	0	1	0	1
Transketolase	0	0	1	1
Thiamine-binding periplasmic protein	0	0	1	1
Solute carrier family 22 member 1	0	1	0	1
Solute carrier family 22 member 2	0	1	0	1
Acetylcholinesterase	0	1	0	1
1-deoxy-D-xylulose-5-phosphate synthase	0	0	1	1
1-deoxy-D-xylulose-5-phosphate synthase	0	0	1	1
Ubiquitin-like modifier activating enzyme 2	0	1	0	1
SUMO1 activating enzyme subunit 1	0	1	0	1
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	1	0	0	1
hexokinase	0	1	0	1
SUMO-conjugating enzyme UBC9	0	1	0	1
eukaryotic translation initiation factor 4 gamma 1 isoform 4	0	1	0	1
eukaryotic translation initiation factor 4E isoform 1	0	1	0	1
nuclear receptor ROR-gamma isoform 1	1	0	0	1
lethal(3)malignant brain tumor-like protein 1 isoform I	1	0	0	1
Vif	0	1	0	1
Tat	0	1	0	1
DNA dC->dU-editing enzyme APOBEC-3G isoform 1	0	1	0	1
bifunctional UDP-N-acetylglucosamine pyrophosphorylase/glucosamine-1-phosphate N-acetyltransferase	0	1	0	1
Cholinesterase	0	1	0	1
Acetylcholinesterase	0	1	0	1
Nuclear receptor ROR-gamma	2	0	0	2
Rap guanine nucleotide exchange factor 3	1	0	0	1
Urease subunit alpha	0	1	0	1
Urease subunit beta	0	1	0	1
Carbonic anhydrase	0	1	0	1
pregnane X receptor	1	0	0	1
Cocaine esterase	0	1	0	1
UDP-glucuronosyltransferase 1A9	0	0	0	1
Aldo-keto reductase family 1 member B1	0	1	0	1
Cytochrome P450 2A6	0	1	0	1
Aldo-keto reductase family 1 member A1	0	1	0	1
UDP-glucuronosyltransferase 2B7	0	1	0	2
UDP-glucuronosyltransferase 1-6	0	0	0	1
Liver carboxylesterase 1	0	1	0	1
Aldo-keto reductase family 1 member A1	0	1	0	1
Aldo-keto reductase family 1 member A1	0	1	0	1
Aldo-keto reductase family 1 member B7	0	1	0	1
Sigma non-opioid intracellular receptor 1	0	1	0	1
NAD-dependent protein deacylase sirtuin-5, mitochondrial	0	1	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Ataxia with Lactic Acidosis 2

Synonyms(8)

Research Excerpts

Overview

Context

Research

Studies (84)

Protein Targets (574)

Ataxia with Lactic Acidosis 2

Synonyms(8)

Research Excerpts

Overview

Context

Research

Studies (84)

Drugs Studied (52)

Protein Targets (574)