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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

CRYBA4  -  crystallin, beta A4

Homo sapiens

Synonyms: Beta-A4 crystallin, Beta-crystallin A4, CTRCT23, MCOPCT4
 
 
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Disease relevance of CRYBA4

  • To date, CRYBA4 was the only gene in this cluster not associated with either human or murine cataracts [1].
 

High impact information on CRYBA4

  • Considering that CRYBA4 associates with CRYBB2 and that the latter protein has been implicated in microphthalmia, mutational analysis of CRYBA4 was performed in 32 patients affected with microphthalmia (small eye) [1].
  • Genetic analysis of a large Indian family with an autosomal dominant cataract phenotype allowed us to identify a novel cataract gene, CRYBA4 [1].
  • Sequencing failed to detect any nucleotide changes in CRYBA4; however, a G-->T transversion in exon 6 of CRYBB1 was found to cosegregate with cataract in the family [2].
  • 2. Suggestive evidence of linkage was detected at markers D22S1167 (LOD score [Z] 2.09 at recombination fraction [theta] 0) and D22S1154 (Z=1.39 at theta=0), which closely flank the genes for betaB1-crystallin (CRYBB1) and betaA4-crystallin (CRYBA4) [2].
  • A PstI polymorphism associated with CRYBA4 on human chromosome 22 [3].
 

Anatomical context of CRYBA4

References

  1. CRYBA4, a Novel Human Cataract Gene, Is Also Involved in Microphthalmia. Billingsley, G., Santhiya, S.T., Paterson, A.D., Ogata, K., Wodak, S., Hosseini, S.M., Manisastry, S.M., Vijayalakshmi, P., Gopinath, P.M., Graw, J., Heon, E. Am. J. Hum. Genet. (2006) [Pubmed]
  2. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. Mackay, D.S., Boskovska, O.B., Knopf, H.L., Lampi, K.J., Shiels, A. Am. J. Hum. Genet. (2002) [Pubmed]
  3. A PstI polymorphism associated with CRYBA4 on human chromosome 22. Bijlsma, E.K., Hulsebos, T.J. Hum. Mol. Genet. (1993) [Pubmed]
  4. Localization of the beta A4-crystallin gene (CRYBA4) on human chromosome 22 in the region q11.2-->q13.1. van Rens, G.L., Geurts van Kessel, A.H., Bloemendal, H. Cytogenet. Cell Genet. (1992) [Pubmed]
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