{"symbol":"ALDH6A1","synonyms":["MMSDH","MMSADHA"],"name":"aldehyde dehydrogenase 6 family, member A1","description":"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]","ncbiEntrezGeneId":4329,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4329","proteins":[{"symbol":"MMSA_HUMAN","href":"/api/1.0/protein/MMSA_HUMAN"}],"hgncRootFamilies":[{"name":"Aldehyde dehydrogenases (ALDH)","href":"/api/1.0/gene_family/Aldehyde+dehydrogenases+%28ALDH%29"}]}