Entrez gene ID | | 8659 |
Official gene symbol | | ALDH4A1 |
Full name | | aldehyde dehydrogenase 4 family, member A1 |
Aliases | | ,ALDH4,DKFZp779M035,P5CD,P5CDh, |
Gene 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] |
Location | | Chromosome: 1 Locus: 1p36 |
Gene position | | 19229293 - 19197924 Map Viewer |
Gene orientation | | minus |
Gene size | | 31370 bp |
Gene sequence |
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OMIM ID | | 606811 |