Official Full Name
aldehyde dehydrogenase 4 family, member A1
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.
ALDH4A1; aldehyde dehydrogenase 4 family, member A1; ALDH4; delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial; P5CDh; P5C dehydrogenase; aldehyde dehydrogenase family 4 member A1; mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase; P5C; P5CD; DKFZp779M035; zgc:63592; aldehyde dehydrogenase 4A1; L-glutamate gamma-semialdehyde dehydrog