Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: YRILREAGL PPNIIQFVPA DGPLFGDTVT SSEHLCGINF TGSVPTFKHL WKQVAQNLDR FHTFPRLAGE CGGKNFHFVH RSADVESVVS GTLRSAFEYG GQKCSACSRL YVPHSLWPQI KGRLLEEHSR IKVGDPAEDF GTFFSAVIDA KSFARIKKWL EHARSSPSLT ILAGGKCDDS VGYFVEPCIV ESKDPQEPIM KEEIFGPVLS VYVYPDDKYK ETLQLVDSTT SYGLTGAVFS QDKDVVQEAT KVLRNAAGNF YINDKSTGSI VGQQPFGGAR ASGTNDKPGG PHYILRWTSP QVIKETHKPL GDWSYAYMQ (246-563 aa encoded by BC023600)
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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