ALDH5A1
Summary: This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:610045 Ensembl IDEnsembl:ENSG00000112294 HGNC IDHGNC:HGNC:408 PHARMGKB IDPA24702 Map Location6p22.3 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in ALDH5A1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | HDA | GO:0005739 | mitochondrion |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | ISS | GO:0005739 | mitochondrion |
| CC | TAS | GO:0005759 | mitochondrial matrix |
| BP | ISS | GO:0006006 | glucose metabolic process |
| BP | ISS | GO:0006083 | acetate metabolic process |
Gene expression in normal tissue: ALDH5A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ALDH5A1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112310 | Neurotransmitter release cycle |
| reactome | R-HSA-112315 | Transmission across Chemical Synapses |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-888590 | GABA synthesis, release, reuptake and degradation |
| reactome | R-HSA-916853 | Degradation of GABA |
| kegg | hsa00250 | Alanine, aspartate and glutamate metabolism - Homo sapiens (human) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ALDH5A1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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