Aliases for CRYBB2 Gene
External Ids for CRYBB2 Gene
Previous HGNC Symbols for CRYBB2 Gene
Previous GeneCards Identifiers for CRYBB2 Gene
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-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. [provided by RefSeq, Jul 2008]
GeneCards Summary for CRYBB2 Gene
CRYBB2 (Crystallin Beta B2) is a Protein Coding gene. Diseases associated with CRYBB2 include cataract 3, multiple types and cerulean cataract. Among its related pathways are Wnt signaling pathway (KEGG). GO annotations related to this gene include protein homodimerization activity and structural molecule activity. An important paralog of this gene is CRYGC.
UniProtKB/Swiss-Prot for CRYBB2 Gene
Crystallins are the dominant structural components of the vertebrate eye lens.