| Gene Symbol | ALDH4A1 |
| Entrez Gene ID | 8659 |
| Full Name | aldehyde dehydrogenase 4 family member A1 |
| Synonyms | ALDH4,P5CD,P5CDh |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]. |
| Disorder MIM: | |
| Disorder Html: | Hyperprolinemia, type II, 239510 (3) |
User Manual