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.

aldehyde dehydrogenase 6 family, member A1; Aldehyde dehydrogenase family 6 member A1; aldehyde dehydrogenase family 6, subfamily A1; malonate-semialdehyde dehydrogenase; methylmalonate semialdehyde dehydrogenase; Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial; MGC40271; mitochondrial acylating methylmalonate-semialdehyde dehydrogenase; MMSDH; testicular tissue protein Li 122; 1110038I05Rik; AI314632; ALDH6A1; MMSADHA; MMSDH;

F1N7K8, Q02252

51kDa

Mouse monoclonal

Cow, Human, Mouse, Rat

WB 1:500-1:2000, IP 1:50-100

Store at -20 °C. Stable for 12 months from date of receipt.