Aliases for ALDH6A1 Gene
- Aldehyde Dehydrogenase 6 Family Member A1 2 3 5
- MMSDH 3 4
- Methylmalonate-Semialdehyde Dehydrogenase [Acylating], Mitochondrial 3
- Mitochondrial Acylating Methylmalonate-Semialdehyde Dehydrogenase 3
- Malonate-Semialdehyde Dehydrogenase [Acylating] 4
- Aldehyde Dehydrogenase 6 Family, Member A1 2
- Aldehyde Dehydrogenase Family 6 Member A1 4
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 Succinic Semialdehyde Dehydrogenase Deficiency. Among its related pathways are beta-Alanine metabolism (KEGG) and Inositol phosphate metabolism (KEGG). GO annotations related to this gene include poly(A) RNA binding and fatty-acyl-CoA binding. An important paralog of this gene is ALDH8A1.
UniProtKB/Swiss-Prot for ALDH6A1 Gene
Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA.