CYP2E1*1 Allele
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
CYP2E1*1 Allele
- CYP2E1*1
- CYP2E1*1 Allele
- Cytochrome P450, Family 2, Subfamily E, Polypeptide 1*1 Allele
NCIT_C116977, NCIT_C142800, NCIT_C142799
CTRP
Ethnicity Association: Asian; Caucasian
CYP2E1*1 Allele
NM_000773
Cytochrome P450 2E1
CYP2E1_1_Allele
124040
CYP2E1*1 Allele
9772223, 10491286
Gene or Genome
C1707232
C46028
Term relations
- CYP2E1 Gene
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_Has_Abnormality some Tandem Repeat Variation
- Allele_Has_Activity some Enhanced Biochemical Activity
- Allele_Has_Abnormality some Insertion Mutation
- Allele_In_Chromosomal_Location some 10q24.3-10qter