|Aliases ALDH1A1, ALDC, ALDH-E1, ALDH1, ALDH11, HEL-9, HEL-S-53e, HEL12, PUMB1, RALDH1, aldehyde dehydrogenase 1 family member A1|
External IDs MGI: 1353450 HomoloGene: 110441 GeneCards: ALDH1A1
Aldehyde dehydrogenase 1 family, member A1, also known as ALDH1A1 or retinaldehyde dehydrogenase 1 (RALDH1), is an enzyme that in humans is encoded by the ALDH1A1 gene.
This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of this enzyme, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of the mitochondrial isozyme. This gene encodes the main cytosolic isoform, which has a lower affinity for aldehydes than the mitochondrial enzyme.
ALDH1A1 also belongs to the group of corneal crystallins that help maintain the transparency of the cornea.