Sequence of this protein is as follows: MRKHVLAASF SMLSLLVIMG DTDSKTDSSF IMDSDPRRCM RHHYVDSISH PLYKCSSKMV LLARCEGHCS QASRSEPLVS FSTVLKQPFR SSCHCCRPQT SKLKALRLRC SGGMRLTATY RYILSCHCEE CNS
ALDH4A1 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.
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Protein Aliases: Norrie disease (pseudoglioma); Norrie disease protein; Norrin; X-linked exudative vitreoretinopathy 2 protein
Gene Aliases: EVR2; FEVR; ND; NDP
UniProt ID: (Human) Q00604
Entrez Gene ID: (Human) 4693