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