| Gene Symbol |
ALDH4A1
|
| Gene Synonyms |
A930035F14Rik Ahd-1 Ahd1 ALDH4 Aldh5a1 E330022C09 P5CD P5CDh P5cdhl P5cdhs Ssdh1 |
| Gene Full Name |
aldehyde dehydrogenase 4 family member A1 |
| 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, Jun 2009] |
| Alternative Names |
aldehyde dehydrogenase family 4 member A1 epididymis secretory sperm binding protein L-glutamate gamma-semialdehyde dehydrogenase mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase P5C dehydrogenase RP11-128M10.1 |
| Molecular Weight(MW) |
62kDa(observed:55、62kDa) |
| Cellular Localization |
Mitochondrion |