Gene Symbol | ALDH6A1 |
Entrez Gene ID | 4329 |
Full Name | aldehyde dehydrogenase 6 family member A1 |
Synonyms | MMSADHA,MMSDH |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3) |