CRYAB: a major structural protein of the eye lens. A member of the small heat shock protein (sHSP also known as the HSP20) family. Alpha-B is expressed in the lens as well as other tissues. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy.
Protein type: Chaperone; Heat shock protein
Chromosomal Location of Human Ortholog: 11q23.1
Cellular Component: actin filament bundle; axon; cell surface; cytoplasm; cytosol; dendritic spine; extracellular exosome; Golgi apparatus; M band; microtubule cytoskeleton; mitochondrion; myelin sheath; nucleoplasm; nucleus; perikaryon; postsynaptic density; Z disc
Molecular Function: identical protein binding; metal ion binding; microtubule binding; protein binding; protein complex binding; protein homodimerization activity; structural constituent of eye lens; unfolded protein binding
Biological Process: aging; cellular response to gamma radiation; lens development in camera-type eye; microtubule polymerization or depolymerization; muscle contraction; muscle organ development; negative regulation of amyloid fibril formation; negative regulation of apoptosis; negative regulation of cell growth; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of gene expression; negative regulation of intracellular transport; negative regulation of protein homooligomerization; negative regulation of reactive oxygen species metabolic process; protein folding; protein homooligomerization; protein stabilization; regulation of cell death; regulation of cellular response to heat; response to estradiol; response to hydrogen peroxide; response to hypoxia; stress-activated MAPK cascade; tubulin folding
Disease: Cardiomyopathy, Dilated, 1ii; Cataract 16, Multiple Types; Myopathy, Myofibrillar, 2; Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-b Crystallin-related
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