靶标:
ALDH4A1
产品别名:
ALDH4; P5CD; P5CDh; ALDH4A1; aldehyde dehydrogenase 4 family member A1; aldehyde dehydrogenase 4 family member A1; delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial; L-glutamate gamma-semialdehyde dehydrogenase; P5C dehydrogenase; aldehyde dehydrogenase family 4 member A1; epididymis secretory sperm binding protein; mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase;
背景信息:
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],