| Gene Symbol |
ALDH6A1
|
| Gene Synonyms |
1110038I05Rik MMSADHA MMSDH |
| Gene Full Name |
aldehyde dehydrogenase 6 family member A1 |
| Gene 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] |
| Alternative Names |
aldehyde dehydrogenase family 6 member A1 aldehyde dehydrogenase family 6 subfamily A1 malonate-semialdehyde dehydrogenase malonate-semialdehyde dehydrogenase (acetylating) methylmalonate semialdehyde dehydrogenase methylmalonate-semialdehyde dehydrogenase [acylating] mitochondrial MGC40271 mitochondrial acylating methylmalonate-semialdehyde dehydrogenase MMSDH testicular tissue protein Li 122 |
| Molecular Weight(MW) |
58kDa |
| Cellular Localization |
Mitochondrion,Nucleoplasm |