CRYBB1
Description
The CRYBB1 (crystallin beta B1) is a protein-coding gene located on chromosome 22.
CRYBB1, located on chromosome 22, encodes beta-crystallin B1, a protein essential for maintaining the transparency and refractive index of the vertebrate eye lens. Mutations in this gene are linked to autosomal dominant congenital cataract. Crystallins are classified into two groups: taxon-specific enzymes and ubiquitous proteins. The ubiquitous crystallins, like beta-crystallin B1, are the primary proteins in the vertebrate eye lens and are remarkably stable, as lens fiber cells lose their nuclei during development. Crystallins are further divided into alpha, beta, and gamma families. Beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Beta-crystallins, known for their heterogeneity, differ in the presence or absence of a C-terminal extension. Beta-crystallins form aggregates of varying sizes and can self-associate to create dimers or heterodimers with other beta-crystallins.
CRYBB1 encodes for beta-crystallin B1, a major protein component of the vertebrate eye lens.
CRYBB1 is also known as CATCN3, CTRCT17.
