CRYBB2


Description

The CRYBB2 (crystallin beta B2) is a protein-coding gene located on chromosome 22.

Beta-crystallin B2 is a protein in humans encoded by the CRYBB2 gene. Crystallins are divided into two classes: taxon-specific (enzyme) and ubiquitous. The ubiquitous class comprises the major proteins of the vertebrate eye lens and maintains its transparency and refractive index. Lens central fiber cells lose their nuclei during development, so these crystallins are made once and retained for life, making them extremely stable. Mammalian lens crystallins are categorized into alpha, beta, and gamma families, with beta and gamma forming a superfamily. Alpha and beta families are further divided into acidic and basic groups. Crystallins have seven protein regions: four homologous motifs, a connecting peptide, and N-terminal and C-terminal extensions. Beta-crystallins are the most heterogeneous, with the basic group having a C-terminal extension, unlike the acidic group. They form aggregates of varying sizes and can self-associate into dimers or heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3.

CRYBB2 encodes beta-crystallin B2, a protein that is a major structural component of the vertebrate eye lens, contributing to its transparency and refractive index.

CRYBB2 is also known as CCA2, CRYB2, CRYB2A, CTRCT3, D22S665.

Associated Diseases


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