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Gene Review:

CRYBB3 - crystallin, beta B3

Homo sapiens

Synonyms: Beta-B3 crystallin, Beta-crystallin B3, CATCN2, CRYB3, CTRCT22

Hulsebos, T.J. et al., Aarts, H.J. et al., Riazuddin, S.A. et al., Kramer, P. et al.

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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

We report linkage in this family to the region on chromosome 22q that includes two beta crystallin genes (CRYBB2, CRYBB3) and one pseudogene (CRYBB2P1) [3].
Linkage between the beta B2 and beta B3 crystallin genes in man and rat: a remnant of an ancient beta-crystallin gene cluster [4].
Both in the human and the rat genome the single-copy beta B3-crystallin gene is linked to a beta B2-crystallin gene [4].
In this way we could directly assign CRYB3 to chromosome 22 [2].
One detects a two-system MspI restriction fragment length polymorphism specific for the CRYB2-1/CRYB3 cluster [2].

References

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]
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]
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]
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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CRYBB3	Bos taurus
CRYBB3	Canis lupus familiaris
crybb3	Danio rerio
CRYBB3	Gallus gallus
CRYBB3	Macaca mulatta
Crybb3	Mus musculus
CRYBB3	Pan troglodytes
Crybb3	Rattus norvegicus
crybb3	Xenopus (Silurana) tropicalis

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