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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ALDH6A1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4329
Official gene symbolALDH6A1
Full namealdehyde dehydrogenase 6 family, member A1
Aliases,MGC40271,MMSADHA,MMSDH,
Gene summaryThis 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]
LocationChromosome: 14   Locus: 14q24.3
Gene position74551196 - 74526869  Map Viewer
Gene orientationminus
Gene size24328 bp
Gene sequence
OMIM ID603178