GJA3

GJA3

A gene on chromosome 13q12.11 that encodes an alpha chain of the gap junction protein family or connexins, which is a component of lens fibre gap junctions. 

Molecular pathology
GJA3 mutations are linked to zonular pulverulent cataract type 3.
References in periodicals archive ?
GJA3, CRYGD, DMPK, MIP, BFSP2, PITX3, CTDP1, SIL1, RAB3GAP1, RAB3GAP2, RAB 18, GJA1, RECQL4, DHCR7,CRYBB3, NDP and NHS, located at divergent chromosomes (Xu and Traboulsi, 2014; Chen et al.
sup][1],[10] Of the more than 29 known nonsyndromic CC genes, at least 22 are involved in autosomal dominant congenital cataract (ADCC), including BEST1 , BFSP2 , CHMP4B , CRYAA , CRYAB , CRYBA1 , CRYBA4 , CRYBB1 , CRYBB2 , CRYBB3 , CRYGC , CRYGD , CRYGS , EPHA2 , GJA3 , GJA8 , HSF4 , MAF , MIP , PITX3 , SLC16A12 , and VIM .
Forty-five genes implicated in the CC, including 29 nonsyndromic cataract genes ( AGK , BEST1 , BFSP1 , BFSP2 , CHMP4B , CRYAA , CRYAB , CRYBA1 , CRYBA4 , CRYBB1 , CRYBB2 , CRYBB3 , CRYGC , CRYGD , CRYGS , EPHA2 , FYCO1 , GJA3 , GJA8 , HSF4 , P3H2 , LIM2 , MAF , MIP , NHS , PITX3 , SLC16A12 , TDRD7 , and VIM ) and 16 syndromic cataract genes ( ABHD12 , CNBP , CTDP1 , EYA1 , FTL , GALK1 , GCNT2 , GFER , GJA1 , JAM3 , OPA3 , PAX6 , RAB3GAP2 , SIL1 , SIX6 , and SLC33A1 ), were collected from careful literature and database search.
63) Saydamligi ve dolayisiyla islevi hucrelerinin hidrasyonu ve hacmiyle dogrudan ilgili olan lenste nutrisyon, hidrasyon ve atik urunlerin uzaklastirilmasi gibi gorevleri olan major intrinsik protein, konneksinler ve lens intrinsik membran protein 2'yi kodlayan genletdeki (MIP, GJA3, GJA8, LIM2) mutasyonlar da bu islevleri bozarak kataraktogenezde rol alirlar (63) Lensin embriyolojik gelisiminde gorev yapan bircok ttansktipsiyon faktorunu kodlayan genlerdeki (PITX3, PAX6, FOXE3, EYA1, MAF, HSF4) mutasyonlar da katataktla iliskilendirilmistir.