ALDH6A1 gene

aldehyde dehydrogenase 6 family member A1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA.

From NCBI Gene:

  • Methylmalonate semialdehyde dehydrogenase deficiency

From UniProt:

Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD): A metabolic disorder characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. [MIM:614105]

Cytogenetic Location: 14q24.3, which is the long (q) arm of chromosome 14 at position 24.3

Molecular Location: base pairs 74,057,662 to 74,084,493 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q24.3, which is the long (q) arm of chromosome 14 at position 24.3
  • MMSADHA
  • MMSDH