Aldehyde dehydrogenase 4 family, member A1

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External IDsGeneCards: [1]
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SpeciesHumanMouse
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Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.[1][2]

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase that 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.[2]

References

  1. Hu CA, Lin WW, Valle D (Jun 1996). "Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase". J Biol Chem. 271 (16): 9795–800. doi:10.1074/jbc.271.16.9795. PMID 8621661.
  2. 2.0 2.1 "Entrez Gene: ALDH4A1 aldehyde dehydrogenase 4 family, member A1".

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Further reading