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About: CRYAB     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:WikicatProteins, within Data Space : dbpedia.org associated with source document(s)

Type: ThingBiomoleculegeneBiomoleculeGeneyago:Abstraction100002137yago:Chemical114806838yago:Compound114818238yago:Macromolecule114944888yago:Material114580897yago:Matter100020827yago:Molecule114682133yago:OrganicCompound114727670yago:Part113809207yago:PhysicalEntity100001930yago:Protein114728724yago:Relation100031921HumanGeneproteinyago:Substance100019613yago:Thing100002452yago:Unit109465459yago:WikicatProteins New Facet based on Instances of this Class

Alpha-crystallin B chain is a protein that in humans is encoded by the CRYAB gene. It is part of the small heat shock protein family and functions as molecular chaperone that primarily binds misfolded proteins to prevent protein aggregation, as well as inhibit apoptosis and contribute to intracellular architecture. Post-translational modifications decrease the ability to chaperone. Mutations in CRYAB cause different cardiomyopathies, skeletal myopathies mainly myofibrillar myopathy, and also cataracts. In addition, defects in this gene/protein have been associated with cancer and neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease.