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Immunogen sequence: RCMALSTAVL VGEAKKWLPE LVEHAKNLRV NAGDQPGADL GPLITPQAKE RVCNLIDSGT KEGASILLDG RKIKVKGYEN GNFVGPTIIS NVKPNM
This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: aldehyde dehydrogenase 6 family, member A1; Aldehyde dehydrogenase family 6 member A1; malonate-semialdehyde dehydrogenase; Malonate-semialdehyde dehydrogenase [acylating]; Methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial; MGC40271; mitochondrial acylating methylmalonate-semialdehyde dehydrogenase; MMSDH; testicular tissue protein Li 122
Gene Aliases: ALDH6A1; MMSADHA; MMSDH
UniProt ID: (Human) Q02252
Entrez Gene ID: (Human) 4329
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