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Peptide sequence: DPRRCMRHHY VDSISHPLYK CSSKMVLLAR CEGHCSQASR SEPLVSFSTV
Sequence homology: Cow: 100%; Dog: 100%; Guinea Pig: 100%; Horse: 100%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Norrie disease (pseudoglioma); Norrie disease protein; Norrin; X-linked exudative vitreoretinopathy 2 protein
基因别名: EVR2; FEVR; ND; NDP
UniProt ID: (Human) Q00604
Entrez Gene ID: (Human) 4693