CRYGC Antibody

1. Study identified eight different mutations in CRYGC associated with autosomal dominant congenital nuclear cataracts (ADCC) in a cohort of Chinese family and shows that CRYGC mutations are responsible for 4.1% of ADCC families in the cohort. The results expand the spectrum of CRYGC mutations as well as their associated phenotypes. PMID: 28298635
2. the G129C mutation in gammaC-crystallin, which is associated with autosomal dominant congenital nuclear cataract, perturbed the unfolding process by promoting the accumulation of two distinct aggregation-prone intermediates under mild denaturing conditions. PMID: 26165230
3. Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. PMID: 24281366
4. We confirm that congenital cataract is associated with a CRYGC gene mutation. PMID: 23954869
5. identified a CRYAA mutation in family A and a CRYGC mutation in family B with congenital cataract PMID: 23441109
6. A nonsense mutation c.471G>A in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. PMID: 22876111
7. Molecular modeling and spectroscopic studies indicated that the mutation impaired the tertiary structure of gamma C crystallin by modifying the H-bonding network in the C-terminal domain. PMID: 22052681
8. Transgenic expression of mutant CRYGC5bpd gamma-crystallin at near-physiological levels causes lens opacities and fiber cell defects, confirming the pathogenicity of this mutation. PMID: 21436266
9. The T5P mutation obviously changes conformation and decreases conformational stability. PMID: 11904153
10. the loss of interactions of T5P mutant of the gammaC-crystallin with other crystallins may play a larger role than the protection afforded by chaperone-like activity in Coppock-like cataract. PMID: 15322286
11. This is the first case of phenotypic heterogeneity in the primary congenital cataract specifically associated with the R168W mutation in the CRYGC gene. PMID: 17679936
12. Identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea. PMID: 19204787

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HGNC: 2410

OMIM: 123680

KEGG: hsa:1420

STRING: 9606.ENSP00000282141

UniGene: Hs.72910