Gene: CRYBB3

Alternate names for this Gene: CATCN2|CRYB3|CTRCT22

Gene Summary: Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are 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. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form 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-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.23

Description of this Gene: crystallin beta B3

Type of Gene: protein-coding

rs587777601 in CRYBB3 gene and Cataract, Congenital Nuclear, Autosomal Recessive 2 PMID 23508780 2013 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

PMID 15914629 2005 Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.

rs74315490 in CRYBB3 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.