ALDH4A1(redirected from OTTHUMP00000002544)
ALDH4A1A gene on chromosome 1p36 that encodes mitochondrial matrix NAD-dependent dehydrogenase (of the aldehyde dehydrogenase family of proteins), which catalyses the second step of the proline degradation pathway by converting pyrroline-5-carboxylate to glutamate, a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles.
ALDH4A1 mutation causes type-II hyperprolinaemia, which is characterised by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline.
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