Entrez gene ID | | 4329 |
Official gene symbol | | ALDH6A1 |
Full name | | aldehyde dehydrogenase 6 family, member A1 |
Aliases | | ,MGC40271,MMSADHA,MMSDH, |
Gene summary | | This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, 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. [provided by RefSeq] |
Location | | Chromosome: 14 Locus: 14q24.3 |
Gene position | | 74551196 - 74526869 Map Viewer |
Gene orientation | | minus |
Gene size | | 24328 bp |
Gene sequence |
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OMIM ID | | 603178 |
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