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CRYAB

MIM.123590 11q22.3-q23.1

Thursday 18 March 2004

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