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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.
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Protein Aliases: aldehyde dehydrogenase 4 family, member A1; Aldehyde dehydrogenase family 4 member A1; Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial; L-glutamate gamma-semialdehyde dehydrogenase; mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase; P5C dehydrogenase; RP11-128M10.1
Gene Aliases: A930035F14Rik; Ahd-1; Ahd1; ALDH4; ALDH4A1; Aldh5a1; E330022C09; P5CD; P5CDH; P5cdhl; P5cdhs; Ssdh1
UniProt ID: (Human) P30038, (Mouse) Q8CHT0
Entrez Gene ID: (Human) 8659, (Rat) 641316, (Mouse) 212647
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