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Gene Review

CRYBB3  -  crystallin, beta B3

Homo sapiens

Synonyms: Beta-B3 crystallin, Beta-crystallin B3, CATCN2, CRYB3, CTRCT22
 
 
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Disease relevance of CRYBB3

  • CONCLUSIONS: For the first time, a mutation in CRYBB3 is reported in two consanguineous Pakistani families with autosomal recessive congenital cataracts [1].
  • Direct assignment of the human beta B2 and beta B3 crystallin genes to 22q11.2----q12: markers for neurofibromatosis 2 [2].
 

High impact information on CRYBB3

References

  1. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Riazuddin, S.A., Yasmeen, A., Yao, W., Sergeev, Y.V., Zhang, Q., Zulfiqar, F., Riaz, A., Riazuddin, S., Hejtmancik, J.F. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  2. Direct assignment of the human beta B2 and beta B3 crystallin genes to 22q11.2----q12: markers for neurofibromatosis 2. Hulsebos, T.J., Bijlsma, E.K., Geurts van Kessel, A.H., Brakenhoff, R.H., Westerveld, A. Cytogenet. Cell Genet. (1991) [Pubmed]
  3. A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. Kramer, P., Yount, J., Mitchell, T., LaMorticella, D., Carrero-Valenzuela, R., Lovrien, E., Maumenee, I., Litt, M. Genomics (1996) [Pubmed]
  4. Linkage between the beta B2 and beta B3 crystallin genes in man and rat: a remnant of an ancient beta-crystallin gene cluster. Aarts, H.J., Den Dunnen, J.T., Lubsen, N.H., Schoenmakers, J.G. Gene (1987) [Pubmed]
 
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