Gene Symbol | ALDH4A1 |
Entrez Gene ID | 8659 |
Full Name | aldehyde dehydrogenase 4 family member A1 |
Synonyms | ALDH4,P5CD,P5CDh |
General protein information |
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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) |