GJB3

GJB3

Notation for a gene for DFNA2.

GJB3

A gene on chromosome 1q34 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB3 mutations are linked to non-syndromic deafness or erythrokeratodermia variabilis.
References in periodicals archive ?
Current study was initiated to analyze the 20 most common mutations by MALDI-TOF-MS method in deafness-associated genes (GJB2, GJB3, SLC26A4 and mitochondrial 12SrRNA) in 3,331 newborns from Anhui Province of China.
Key words: Deafness, Mutations, GJB2, GJB3, SLC26A4, Mitochondrial 12SrRNA, Postnatal genetic screening
42%) cases heterozygous carrier for 538C>T and 547G>A mutations in GJB3 while 11 (0.
Total five mutations in GJB2, 2 in GJB3, 11 in SLC26A4 and 2 in mitochondrial 12SrRNA were studied.
Most cases of ADNSHHI are characterized by postlingual progressive sensorineural hearing loss, with the age of onset mostly being in the second or the 3 [sup]rd year, such as is the case with KCNQ4 , [sup][11] GJB3 , [sup][12] and MYH14 .
Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.
1 kromozomu uzerinde konneksin 31'i kodlayan GJB3 vekonneksin 30,3'u kodlayan GJB4 gen mutasyonlari saptanir.