ALDH6A1 Antibody – Rabbit Polyclonal

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]

ALDH6A1: Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA. Defects in ALDH6A1 are the cause of methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD). This is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Belongs to the aldehyde dehydrogenase family.

Protein type: EC 1.2.1.18; Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 1.2.1.27; Carbohydrate Metabolism - propanoate; Carbohydrate Metabolism - inositol phosphate; Mitochondrial; Oxidoreductase

Chromosomal Location of Human Ortholog: 14q24.3

Cellular Component: mitochondrial matrix; mitochondrion; nucleoplasm

Molecular Function: acyl-CoA binding; aldehyde dehydrogenase (NAD) activity; malonate-semialdehyde dehydrogenase (acetylating) activity; methylmalonate-semialdehyde dehydrogenase (acylating) activity; thiolester hydrolase activity

Biological Process: beta-alanine catabolic process; branched chain family amino acid catabolic process; brown fat cell differentiation; thymine catabolic process; thymine metabolic process; valine catabolic process; valine metabolic process

Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency