GJA3

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).

Full Name

gap junction protein alpha 3

Function

Structural component of lens fiber gap junctions (PubMed:30044662).

Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells (By similarity).

They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:30044662).

Biological Process

Cell-cell signaling Source: GO_Central
Gap junction-mediated intercellular transport Source: UniProtKB
Visual perception Source: InterPro

Cellular Location

Cell membrane; Gap junction

Involvement in disease

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.