Full name: aldehyde dehydrogenase 6 family member A1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: MMSADHA; MMSDH

Summary: 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. [provided by RefSeq, Jun 2013]

Expression: Biased expression in kidney (RPKM 142.3), liver (RPKM 67.8) and 11 other tissues

Gene size: 27607bp

Exon count: 12