CRYBA4
Domain
Has a two-domain beta-structure, folded into four very similar Greek key motifs.
Function
Crystallins are the dominant structural components of the vertebrate eye lens.
Involvement in disease
Cataract 23, multiple types
CTRCT23
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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT23 is a zonular cataract. 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. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the beta/gamma-crystallin family.
Alternative names
Beta-crystallin A4, Beta-A4 crystallin, CRYBA4