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Delta-1-pyrroline-5-carboxylate dehydrogenase (ALDH4A1)

UniProt Number: P30038
Alternate Names: aldehyde dehydrogenase family 4 member A1, P5C dehydrogenase, ALDH4, P5CDH
Structure and Function: ALDH4A1 belongs to the aldehyde dehydrogenase family of proteins. This enzyme, present in the mitochondrial matrix, converts pyrroline-5-carboxylate to glutamate (the second step of the proline degradation pathway) and is an NAD-dependent dehydrogenase.
Disease Associations: 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. [MIM: 239510]

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