αB-crystallin Anticuerpo(K-20): sc-22391

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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 å, ∫ and © families, and the ∫- and ©-crystallins also compose a superfamily. Crystallins usually contain seven distinct protein regions, inclu-ding four homologous motifs, a connecting peptide, and N- and C-terminal extensions. å-crystallins consist of three gene products, åA-, åB- and åC-crystallin, which are members of the small heat shock protein family (HSP 20). å-crystallins act as molecular chaperones by holding denatured proteins in large soluble aggregates. However, unlike other molecular chaperones, å-crystallins do not renature these proteins. Expression of åA-crystallin is restricted to the lens and defects of this gene cause the development of autosomal dominant congenital cataracts (ADCC). The human åB-crystallin gene product is expressed in many tissues, including lens, heart and skeletal muscle. Elevated expression of åB-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.