ALDH6A1, Official Symbol ALDH6A1provided by HGNC Official Full Name aldehyde dehydrogenase 6 family member A1provided by HGNC Primary source HGNC:HGNC:7179 See related Ensembl:ENSG00000119711 MIM:603178; AllianceGenome:HGNC:7179 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MMSDH; MMSADHA 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 See more Orthologs mouse all