CRYAB
MIM.123590 11q22.3-q23.1
Alpha-B-crystallin (CRYAB) is a member of the small heat-shock protein family of crystallins. The crystallins compose approximately 90% of the soluble protein of the vertebrate eye lens and include 3 major families of ubiquitously expressed crystallins: alpha A (CRYAA) and alpha B (CRYAB)(MIM.123580), beta (CRYBA1) (MIM.123610), gamma (CRYGA) (MIM.123660).
Pathology (alpha-B crystallinopahy)
germline mutations of CRYAB in
- autosomal dominant desmin-related myopathy and lens opacities (MIM.608810)
- autosomal dominant posterior polar cataract (CPP2)
- autosomal dominant desmin-related myopathy (desmin-related myofibrillar myopathy)
References
Head MW, Goldman JE. Small heat shock proteins, the cytoskeleton, and inclusion body formation. Neuropathol Appl Neurobiol. 2000 Aug;26(4):304-12. PMID: #10931363#
Clark JI, Muchowski PJ. Small heat-shock proteins and their potential role in human disease. Curr Opin Struct Biol. 2000 Feb;10(1):52-9. PMID: #10679464#
Lowe J, McDermott H, Pike I, Spendlove I, Landon M, Mayer RJ. alpha B crystallin expression in non-lenticular tissues and selective presence in ubiquitinated inclusion bodies in human disease. J Pathol. 1992 Jan;166(1):61-8. PMID: #1311375#