Terminology Service for NFDI4Health

CYP2E1*1 Allele

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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. [ ]

Term info

Label

CYP2E1*1 Allele

Synonyms
  • CYP2E1*1
  • CYP2E1*1 Allele
  • Cytochrome P450, Family 2, Subfamily E, Polypeptide 1*1 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Asian; Caucasian

Display Name

CYP2E1*1 Allele

Gene Encodes Product

Cytochrome P450 2E1

Legacy Concept Name

CYP2E1_1_Allele

OMIM Number

124040

Preferred Name

CYP2E1*1 Allele

PubMedID Primary Reference

9772223, 10491286

Semantic Type

Gene or Genome

UMLS CUI

C1707232

code

C46028