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Gene Review:

CRYGC - crystallin, gamma C

Homo sapiens

Synonyms: CCL, CRYG3, CTRCT2, Gamma-C-crystallin, Gamma-crystallin 2-1, ...

Héon, E. et al., Santhiya, S.T. et al., Fu, L. et al., Fu, L. et al., García-Granados, A. et al.

Héon, Priston, Schorderet, Billingsley, Girard, Lubsen, Munier,

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Disease relevance of CRYGC

The current study extends those findings to the following crystallin genes involved in some congenital cataracts: CRYAA (R116C), CRYAB (R120G), and CRYGC (T5P) [1].

High impact information on CRYGC

To our knowledge, these findings are the first evidence of an involvement of CRYGC and support the role of CRYGD in human cataract formation [2].
Further analysis of the original Coppock-like-cataract family identified a missense mutation in a highly conserved segment of exon 2 of CRYGC [2].
This diastereomeric mixture was resolved by enzymatic acetylation with CCL [3].
CRYGC (T5P) is one of the many gamma-crystallin mutant genes for autosomal dominant congenital cataracts [4].

Biological context of CRYGC

A functional candidate gene approach was employed for PCR screening and sequencing of the exons and their flanking regions of CRYGC, CRYGD, and CRYAA genes [5].

Analytical, diagnostic and therapeutic context of CRYGC

RESULTS: Sequence analysis of CRYGC and CRYGD genes excluded possible causative mutations but identified known polymorphisms [5].

References

Alteration of protein-protein interactions of congenital cataract crystallin mutants. Fu, L., Liang, J.J. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
The gamma-crystallins and human cataracts: a puzzle made clearer. Héon, E., Priston, M., Schorderet, D.F., Billingsley, G.D., Girard, P.O., Lubsen, N., Munier, F.L. Am. J. Hum. Genet. (1999) [Pubmed]
Seven-membered cyclic sulfite eudesmane derivatives: partial synthesis, structural determination, and enzymatic resolution. García-Granados, A., Parra, A., Rivas, F., Segovia, A.J. J. Org. Chem. (2007) [Pubmed]
Conformational change and destabilization of cataract gammaC-crystallin T5P mutant. Fu, L., Liang, J.J. FEBS Lett. (2002) [Pubmed]
Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family. Santhiya, S.T., Soker, T., Klopp, N., Illig, T., Prakash, M.V., Selvaraj, B., Gopinath, P.M., Graw, J. Mol. Vis. (2006) [Pubmed]

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CRYGC	Bos taurus
si:dkey-57a22.15	Danio rerio
CRYGC	Macaca mulatta
Crygc	Mus musculus
CRYGC	Pan troglodytes
Crygc	Rattus norvegicus

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