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FLASH GENE

Symbol

CYP2E1

contributors: mct/pgu - updated : 20-05-2011

HGNC name	cytochrome P450, family 2, subfamily E, polypeptide 1
HGNC id	2631

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

related resource

Human Cytochrome P450 (CYP) Allele Nomenclature Committee

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   significantly decreased mRNA expression in patients with fibrotic and inflammatory lung diseases compared to healthy controls

Susceptibility

to lung adenocarcinoma and to alcoholism to acute lymphoblastic leukemia(ALL) to oral clefts to head and neck cancer to alcoholic cirrhosis

Variant & Polymorphism other	variant 5 increases the risk of ALL
	homozygote genotypes of PstI/RsaI or DraI polymorphism might be associated with an increased risk of head and neck cancer
	combination of variant genotype of CYP2E1 5B with GABRG2, significantly increased the risk of alcoholic cirrhosis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS