Alpha B-crystallin/CRYAB [CPTC-CRYAB-1]

Crystallins are the major proteins of the vertebrate eye lens, where they maintain the transparency and refractive index of the lens. Crystallins are divided into α, β and γ families, and the β- and γ-crystallins also compose a superfamily. Crystallins usually contain seven distinct protein regions, including four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Alpha-crystallins consist of three gene products, αA-, αB- and αC-crystallin, which are members of the small heat shock protein family (HSP 20). Alpha-crystallins act as molecular chaperones by holding denatured proteins in large soluble aggregates. However, unlike other molecular chaperones, α-crystallins do not renature these proteins. Expression of αA-crystallin is restricted to the lens and defects of this gene cause the development of autosomal dominant congenital cataracts (ADCC). The human αB-crystallin gene product is expressed in many tissues, including lens, heart and skeletal muscle. Elevated expression of αB-crystallin is associated with many neurological diseases, and a missense mutation in this gene has co-segregated in a family with a Desmin-related myopathy.