Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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Immunogen sequence: KTDSSFIMDS DPRRCMRHHY VDSISHPLYK CSSKMVLLAR CEGHCSQASR SEPLVSFSTV LKQPFRSSCH CCRPQTSKLK ALRLRCSGGM RLTATYRYIL SCHCEECNS; Positive Samples: Mouse liver, Mouse heart, Mouse eye
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 protein homolog; Norrin
Gene Aliases: ND; Ndp; Ndph
UniProt ID: (Mouse) P48744
Entrez Gene ID: (Mouse) 17986
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