Aldehyde dehydrogenase 1 family, member A1, also known as ALDH1A1 or retinaldehyde dehydrogenase 1 (RALDH1), is an enzyme that is encoded by the ALDH1A1 gene.[5][6]
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; this gene encodes the main cytosolic isoform, which has a lower affinity for aldehydes than the mitochondrial enzyme.[7] 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. Furthermore, mutations in this enzyme have been linked to alcoholism in humans.[8][9]
ALDH1A1 also belongs to the group of cornealcrystallins that help maintain the transparency of the cornea.[10]
ALDH1A1 maintains stemness of cancer cells and several drugs have been designed to target cancer stem cells by targeting ALDH1A1.[11]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Pereira F, Rosenmann E, Nylen E, Kaufman M, Pinsky L, Wrogemann K (March 1991). "The 56 kDa androgen binding protein is an aldehyde dehydrogenase". Biochemical and Biophysical Research Communications. 175 (3): 831–8. doi:10.1016/0006-291X(91)91640-X. PMID1709013.
Barley K, Dracheva S, Byne W (July 2009). "Subcortical oligodendrocyte- and astrocyte-associated gene expression in subjects with schizophrenia, major depression and bipolar disorder". Schizophrenia Research. 112 (1–3): 54–64. doi:10.1016/j.schres.2009.04.019. PMID19447584. S2CID39003080.
Ekhart C, Doodeman VD, Rodenhuis S, Smits PH, Beijnen JH, Huitema AD (June 2008). "Influence of polymorphisms of drug metabolizing enzymes (CYP2B6, CYP2C9, CYP2C19, CYP3A4, CYP3A5, GSTA1, GSTP1, ALDH1A1 and ALDH3A1) on the pharmacokinetics of cyclophosphamide and 4-hydroxycyclophosphamide". Pharmacogenetics and Genomics. 18 (6): 515–23. doi:10.1097/FPC.0b013e3282fc9766. PMID18496131. S2CID5604777.
Chen YC, Chen YW, Hsu HS, Tseng LM, Huang PI, Lu KH, et al. (July 2009). "Aldehyde dehydrogenase 1 is a putative marker for cancer stem cells in head and neck squamous cancer". Biochemical and Biophysical Research Communications. 385 (3): 307–13. doi:10.1016/j.bbrc.2009.05.048. PMID19450560.
Ekhart C, Rodenhuis S, Smits PH, Beijnen JH, Huitema AD (November 2008). "Relations between polymorphisms in drug-metabolising enzymes and toxicity of chemotherapy with cyclophosphamide, thiotepa and carboplatin". Pharmacogenetics and Genomics. 18 (11): 1009–15. doi:10.1097/FPC.0b013e328313aaa4. PMID18854779. S2CID2979088.
Wan C, Shi Y, Zhao X, Tang W, Zhang M, Ji B, et al. (November 2009). "Positive association between ALDH1A2 and schizophrenia in the Chinese population". Progress in Neuro-Psychopharmacology & Biological Psychiatry. 33 (8): 1491–5. doi:10.1016/j.pnpbp.2009.08.008. PMID19703508. S2CID32862839.