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FLASH GENE

Symbol

HNF4A

contributors: mct/npt/pgu - updated : 28-02-2019

HGNC name	hepatocyte nuclear factor 4, alpha
HGNC id	5024

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MODY1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in diazoxide responsive congenital hyperinsulinism (CHI) constitutional germinal mutation     loss of function dominant inactivating mutations in children with transient, diazoxide-responsive hyperinsulinism (HI) without clear history of perinatal stress

Susceptibility

to type 2 diabetes mellitus

Variant & Polymorphism SNP	associated with the risk of type 2 diabetes mellitus
	late-onset diabetes mutation, -192C>G, impair the function of the HNF4A P2

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed digestive liver   may serve as novel targets for the treatment of liver fibrosis

ANIMAL & CELL MODELS

in the intestines of adult mice, loss of Hnf-4alpha led to an increased proliferation in crypts and to an increased expression of several genes controlled by the Wnt/beta-catenin system