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FLASH GENE

Symbol

GJA4

contributors: mct/npt - updated : 13-05-2020

HGNC name	gap junction protein, alpha 4, 37kDa
HGNC id	4278

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to atherosclerosis to primary ovarian insufficiency (POI) to Polycystic ovarian syndrome (PCOS)

Variant & Polymorphism other	polymorphism protecting against atherosclerosis
	c.946G>A heterozygous substitution leading to a p.Gly316Ser variant that was present in primary ovarian insufficiency (POI)
	GJA4 C1019T variation may contribute to the risk of PCOS

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	deletion of the Cx37 gene (Gja4) in transgenic mice reduced platelet aggregation, fibrinogen binding, granule secretion, and clot retraction
	Cx37-deficient female mice are infertile