CX46 | definition of CX46 by Medical dictionary
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.
GJA3 mutations are linked to zonular pulverulent cataract type 3.
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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] 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 .