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 Carbon metabolism and 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.