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]
"The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet."[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.