GJA3 gene

gap junction protein alpha 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]

From UniProt:

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

From NCBI Gene:

  • Zonular pulverulent cataract 3

From UniProt:

Cataract 14, multiple types (CTRCT14): An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT14 includes zonular pulverulent cataract, among others. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. [MIM:601885]

Cytogenetic Location: 13q12.11, which is the long (q) arm of chromosome 13 at position 12.11

Molecular Location: base pairs 20,138,252 to 20,161,327 on chromosome 13 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 13q12.11, which is the long (q) arm of chromosome 13 at position 12.11
  • CTRCT14
  • CX46
  • CZP3