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FLASH GENE

Symbol

KEAP1

contributors: mct - updated : 24-11-2016

HGNC name	kelch-like ECH-associated protein 1
HGNC id	23177

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in breast cancer, impairing its ability to repress NFE2L2 activity tumoral     --low   downregulation in lung cancer produced by hypermethylation of CpG sites constitutional germinal mutation       in dominant multinodular goiter constitutional     --over   significant KEAP1 promoter demethylation in diabetic cataractous lenses, and possibly age-related cataracts (ARCs)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed osteoarticular bone others KEAP1-NFE2L2 axis may be a therapeutic target for the treatment of bone destructive disease

ANIMAL & CELL MODELS

	Keap-1 deficient mice died postnatally, Nrf2 constitutively accumulates in the nucleus to stimulate transcription of cytoprotective genes
	phenotype of Keap1 -/- mouse skin is similar to that of autosomal recessive congenital ichtyosis (ARCI) (which is located at the same locus)
	Keap1-null mutant mice are juvenile-lethal due to hyperkeratosis of the esophagus