ALDH6A1

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]

Description

aldehyde dehydrogenase 6 family member A1

Protein family

Disease related genes, Enzymes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Protein evidence (Peptideatlas)

Chromosome

14:q24.3 (74056847 - 74084492)

Ensembl ID

ENSG00000119711  (ver. 99.38)

Orthologs

Mouse Aldh6a1: ENSMUSG00000021238

UniProt

Q02252

neXtProt

NX_Q02252

Human splice variants
Mouse splice variants