功能May contribute to the transparency and refractive index of the lens.
组织特异性Lens as well as other tissues.
疾病相关Defects in CRYAB are the cause of myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]. A neuromuscular disorder that results in weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypetrophic cardiomyopathy, and cataract in a subset of patients.
序列相似性Belongs to the small heat shock protein (HSP20) family.
细胞定位Cytoplasm. Nucleus. Translocates to the nucleus during heat shock and resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles.