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the impact of the hyperprolinemia-associated mutation of Ser352 to Leu on the structure and catalytic properties of the P5CDH
ALDH4 is transcriptionally induced by p53.
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.
delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
, aldehyde dehydrogenase 4 family, member A1
, P5C dehydrogenase
, aldehyde dehydrogenase family 4 member A1
, mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase
, aldehyde dehydrogenase 4A1