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Invitrogen
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Human Norrin quantitates human Norrin in serum, plasma, supernatant. The assay will exclusively recognize both natural and recombinant human Norrin.
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。
基因别名 : EVR2, FEVR, ND, NDP
基因ID : (Human) 4693
基因符号 : NDP
蛋白别名 : Norrie disease (pseudoglioma), Norrie disease protein, Norrin, X-linked exudative vitreoretinopathy 2 protein
UniProt ID (Human) Q00604