CRYAB wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CRYAB wild-type allele is located within 11q22.3-q23.1 and is approximately 15 kb in length. This allele, which encodes alpha-crystallin B chain protein, plays a role in maintaining the structure of the lens. Mutation of the gene is associated with myofibrillar myopathy type 2, dilated cardiomyopathy type 1II; cataract 16 and alpha-B crystallin-related, fatal infantile hypertrophy myofibrillar myopathy.

**Synonyms:** - CMD1II - CRYA2 - CTPP2 - CTRCT16 - Crystallin, Alpha B wt Allele - Crystallin, Alpha-2 Gene - Crystallin, Alpha-B Gene - HEL-S-101 - HSPB5 - MFM2