ALDH18A1
Delta-1-pyrroline-5-carboxylate synthase
Protein Summary
Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
- ENST00000371221
- ENSP00000360265
- ENSG00000059573
- ENST00000371224
- ENSP00000360268
- GSAS
- P5CS
- PYCS
- GSAS
- P5CS
- PYCS
- SPG9
- ADCL3
- SPG9A
- SPG9B
- ARCL3A
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
protein domain | 1 | ||
interacting protein | 0.99 | ||
molecular function | 0.98 | ||
transcription factor perturbation | 0.97 | ||
kinase perturbation | 0.96 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 499.28 (req: < 5)
Gene RIFs: 19 (req: <= 3)
Antibodies: 190 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 499.28 (req: >= 5)
Gene RIFs: 19 (req: > 3)
Antibodies: 190 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 12
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0