" /> CYP2E1*1 Allele - CISMeF





Preferred Label : CYP2E1*1 Allele;

NCIt synonyms : CYP2E1*1; Cytochrome P450, Family 2, Subfamily E, Polypeptide 1*1 Allele; CYP2E1 1 Allele;

NCIt definition : Human CYP2E1*1 allele is located within 10q24.3-qter and is approximately 12 kb in length. This allele, a variant form of the CYP2E1 wild-type allele, encodes cytochrome P450 2E1*1 protein. The CYP2E1*1 allele contains 6 to 8 repeats of cis-acting elements (each 42-60 bp long) in the 5'-flanking region of the gene. This repeat polymorphism results in increased enzymatic activity of the cytochrome P450 2E1*1 protein in individuals who carry this allele. However, enhanced in vivo enzymatic activity is only detected after alcohol consumption or in obese individuals.;

NCIt note : Ethnicity Association: Asian; Caucasian;

GenBank Accession Number : NM_000773;

PubMed : 9772223; 10491286;

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14/05/2024


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