This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein 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. Alternate splicing results in multiple transcript variants.
Aliases MMSDH; MMSADHA
Entrez GeneID 4329
Swissprot Q02252
WB Predicted band size 57.8kDa
Host/Isotype Mouse IgG1
Species Reactivity Human
Immunogen Purified recombinant fragment of human ALDH6A1 (AA: 1-195) expressed in E. Coli.
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