Aliases for ALDH6A1 Gene
External Ids for ALDH6A1 Gene
Previous HGNC Symbols for ALDH6A1 Gene
Previous GeneCards Identifiers for ALDH6A1 Gene
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]
GeneCards Summary for ALDH6A1 Gene
ALDH6A1 (Aldehyde Dehydrogenase 6 Family Member A1) is a Protein Coding gene. Diseases associated with ALDH6A1 include methylmalonate semialdehyde dehydrogenase deficiency and developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency. Among its related pathways are beta-Alanine metabolism (KEGG) and Carbon metabolism. GO annotations related to this gene include poly(A) RNA binding and fatty-acyl-CoA binding. An important paralog of this gene is ALDH1A2.
UniProtKB/Swiss-Prot for ALDH6A1 Gene
Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA.