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

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Gene Review: 

CRYGS  -  crystallin, gamma S

Homo sapiens

Synonyms: Beta-crystallin S, CRYG8, CTRCT20, Gamma-S-crystallin, Gamma-crystallin S
 
 
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High impact information on CRYGS

  • CONCLUSIONS: The human CRYGS gene can give rise to at least two transcripts through alternative polyadenylation [1].
  • 3. By sequencing the CRYGS gene, a distinct 1619G-->T (AC068631) heterozygous missense mutation in exon 2 was identified, co-segregating with the disease phenotype in this family and resulting in a glycine (GGC) to valine residue (GTC) substitution in codon 18 (NP_060011) [2].
  • Haplotype analysis indicated that the disease gene lay at approximately 2.8 Mb physical intervals between D3S1571 and D3S3570 and contained CRYGS on 3q27 [2].

References

  1. The human gene for gammaS-crystallin: alternative transcripts and expressed sequences from the first intron. Wistow, G., Sardarian, L., Gan, W., Wyatt, M.K. Mol. Vis. (2000) [Pubmed]
  2. Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. Sun, H., Ma, Z., Li, Y., Liu, B., Li, Z., Ding, X., Gao, Y., Ma, W., Tang, X., Li, X., Shen, Y. J. Med. Genet. (2005) [Pubmed]
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