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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.
analysis of substrate selectivity of Delta(1)-pyrroline-5-carboxylate dehydrogenase (ALDH4A1)
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