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FLASH GENE

Symbol

GJB2

contributors: mct/pgu - updated : 04-09-2017

HGNC name	gap junction protein, beta 2, 26kDa
HGNC id	4284

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DFNA3 , DFNB1 , KHM2 , KID , HID

related resource

Hereditary Hearing Loss Homepage Hereditary Hearing Loss at GeneDis The Connexin-deafness homepage

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       increasing cell survival tumoral     --low   in hepatocellular carcinoma

Susceptibility

to hearing loss with GJB6 deletion associated to hearing impairment

Variant & Polymorphism other	heterozygote mutation of DFNB1 increasing cell survival
	variant M34T significantly associated with hearing impairment
	a heterozygous mutation 32G->A transversion leading to the G11E substitution. Mutated protein shows abnormal properties in protein trafficking and membrane localization

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS