CRYAB

Description

The CRYAB (crystallin alpha B) is a protein-coding gene located on chromosome 11.

CRYAB, the gene encoding alpha-crystallin B chain, is part of the small heat shock protein family. It functions as a molecular chaperone, preventing protein aggregation and contributing to intracellular architecture. Post-translational modifications decrease its chaperone activity. Mutations in CRYAB can cause various diseases, including cardiomyopathies, skeletal myopathies, and cataracts. Defects in CRYAB have also been linked to cancer and neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease. Crystallins are classified into two groups: taxon-specific and ubiquitous. Ubiquitous crystallins, like CRYAB, are major proteins in vertebrate eye lenses, maintaining their transparency and refractive index. They are extremely stable due to their lifelong retention in lens central fiber cells. Mammalian lens crystallins are categorized into alpha, beta, and gamma families, with further divisions into acidic and basic groups.

CRYAB contributes to maintaining the transparency and refractive index of the lens. It acts as a molecular chaperone, preventing the aggregation of various proteins under stress conditions. In lens epithelial cells, CRYAB stabilizes the ATP6V1A protein, preventing its degradation by the proteasome.

CRYAB is also known as CMD1II, CRYA2, CTPP2, CTRCT16, HEL-S-101, HSPB5, MFM2.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing