GJA3

(redirected from CX46)

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 ?
Cx50 ( GJA8 ) and Cx46 ( GJA3 ) are the major components of mammalian lens fiber cells, and mutations of these two genes account for approximately 20% of nonsyndromic familial cataract cases.[sup][7] The typical structure of Cx includes a cytoplasmic N-terminal domain (NT), four transmembrane domains (TM1 to TM4), two extracellular loops (E1 and E2), a CL between TM2 and TM3, and a C-terminal domain (CT).
Reuss, "Modulation of Cx46 hemichannels by nitric oxide," American Journal of Physiology--Cell Physiology, vol.
In addition, in other cellular systems, functional Cx46 HCs stimulate formation of GJCs [65].