Aldehyde Dehydrogenase 4 Family, Member A1 (ALDH4A1)

ALDH4A1 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. Two transcript variants encoding the same protein have been identified for this gene.

The P5CD cDNA encodes a 563-amino acid protein with a putative 24-amino acid N-terminal mitochondrial targeting sequence, which, when cleaved, yields a mature monomer of 539 amino acids.