Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Proteintech
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This antibody detects 11-15 kDa (monomer) and 48 kDa (polymers).
Immunogen sequence: MRKHVLAAS FSMLSLLVIM GDTDSKTDSS FIMDSDPRRC MRHHYVDSIS HPLYKCSSKM VLLARCEGHC SQASRSEPLV SFSTVLKQPF RSSCHCCRPQ TSKLKALRLR CSGGMRLTAT YRYILSCHCE ECNS (1-133 aa encoded by BC029901)
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Norrie disease (pseudoglioma); Norrie disease protein; Norrie disease protein homolog; Norrin; X-linked exudative vitreoretinopathy 2 protein
Gene Aliases: EVR2; FEVR; ND; NDP; Ndph
UniProt ID: (Human) Q00604, (Mouse) P48744
Entrez Gene ID: (Human) 4693, (Mouse) 17986
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
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