Aldehyde dehydrogenase 1A1 (ALDH1A1) is a member of the ALDH gene superfamily. Aldehyde dehydrogenases (ALDHs) are responsible for the metabolism of aldehydes (exogenous and endogenous) through NAD(P)+<\/sup>-dependent oxidation to their corresponding carboxylic acids or CoA esters. Different biological functions have been attributed to the different ALDH family members. The cytosolic enzyme ALDH1A1 is involved in the catalysis of retinol (vitamin A) metabolite retinaldehyde to retinoic acid (RA). RA acts as a ligand for the nuclear receptors retinoic receptor (RAR) and the retinoid X receptor (RXR) and therefore regulates the transcriptional activity of genes involved in multiple important processes including proliferation, differentiation, and apoptosis.
NCBI: 216 MIM: 100640 HGNC: 402 Ensembl: ENSG00000165092
dbSNP: 216 ClinVar: 216 TCGA: ENSG00000165092 COSMIC: ALDH1A1
Sinem Tunçer ; Rümeysa Çamlica ; Idris Yilmaz
ALDH1A1 (Aldehyde Dehydrogenase 1 family member A1)
Atlas Genet Cytogenet Oncol Haematol. 2019-04-01
Online version: http://atlasgeneticsoncology.org/gene/53077/css/lib/teaching-explorer/haematological-explorer/