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.[1][2]
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.[3]
ALDH1A1 also belongs to the group of cornealcrystallins that help maintain the transparency of the cornea.[4]
Transcriptions
"The promoter region of the gene contains an ATA box and a CCAAT box, which are located 32 and 74 bp upstream, respectively, from the transcription initiation site."[5]
References
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Walsh N, Dowling P, O'Donovan N, et al. (2008). "Aldehyde dehydrogenase 1A1 and gelsolin identified as novel invasion-modulating factors in conditioned medium of pancreatic cancer cells". Journal of proteomics. 71 (5): 561–71. doi:10.1016/j.jprot.2008.09.002. PMID18848913.
Barley K, Dracheva S, Byne W (2009). "Subcortical oligodendrocyte- and astrocyte-associated gene expression in subjects with schizophrenia, major depression and bipolar disorder". Schizophr. Res. 112 (1–3): 54–64. doi:10.1016/j.schres.2009.04.019. PMID19447584.
Ekhart C, Doodeman VD, Rodenhuis S, et al. (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". Pharmacogenet. Genomics. 18 (6): 515–23. doi:10.1097/FPC.0b013e3282fc9766. PMID18496131.
Ma S, Chan KW, Lee TK, et al. (2008). "Aldehyde dehydrogenase discriminates the CD133 liver cancer stem cell populations". Mol. Cancer Res. 6 (7): 1146–53. doi:10.1158/1541-7786.MCR-08-0035. PMID18644979.
Xiao T, Shoeb M, Siddiqui MS, et al. (2009). "Molecular cloning and oxidative modification of human lens ALDH1A1: implication in impaired detoxification of lipid aldehydes". J. Toxicol. Environ. Health Part A. 72 (9): 577–84. doi:10.1080/15287390802706371. PMID19296407.
Saito A, Kawamoto M, Kamatani N (2009). "Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects". J. Hum. Genet. 54 (6): 317–23. doi:10.1038/jhg.2009.31. PMID19343046.
Chen YC, Chen YW, Hsu HS, et al. (2009). "Aldehyde dehydrogenase 1 is a putative marker for cancer stem cells in head and neck squamous cancer". Biochem. Biophys. Res. Commun. 385 (3): 307–13. doi:10.1016/j.bbrc.2009.05.048. PMID19450560.
Morimoto K, Kim SJ, Tanei T, et al. (2009). "Stem cell marker aldehyde dehydrogenase 1-positive breast cancers are characterized by negative estrogen receptor, positive human epidermal growth factor receptor type 2, and high Ki67 expression". Cancer Sci. 100 (6): 1062–8. doi:10.1111/j.1349-7006.2009.01151.x. PMID19385968.
Ekhart C, Rodenhuis S, Smits PH, et al. (2008). "Relations between polymorphisms in drug-metabolising enzymes and toxicity of chemotherapy with cyclophosphamide, thiotepa and carboplatin". Pharmacogenet. Genomics. 18 (11): 1009–15. doi:10.1097/FPC.0b013e328313aaa4. PMID18854779.
Wan C, Shi Y, Zhao X, et al. (2009). "Positive association between ALDH1A2 and schizophrenia in the Chinese population". Prog. Neuropsychopharmacol. Biol. Psychiatry. 33 (8): 1491–5. doi:10.1016/j.pnpbp.2009.08.008. PMID19703508.
Low SK, Kiyotani K, Mushiroda T, et al. (2009). "Association study of genetic polymorphism in ABCC4 with cyclophosphamide-induced adverse drug reactions in breast cancer patients". J. Hum. Genet. 54 (10): 564–71. doi:10.1038/jhg.2009.79. PMID19696793.
Lind PA, Eriksson CJ, Wilhelmsen KC (2008). "The role of aldehyde dehydrogenase-1 (ALDH1A1) polymorphisms in harmful alcohol consumption in a Finnish population". Hum. Genomics. 3 (1): 24–35. doi:10.1186/1479-7364-3-1-24. PMID19129088.
