Property Summary

NCBI Gene PubMed Count 40
Grant Count 23
R01 Count 16
Funding $2,579,609.34
PubMed Score 160.71
PubTator Score 58.05

Knowledge Summary

Patent

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Gene RIF (15)

PMID Text
26165230 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.
24281366 Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
23954869 We confirm that congenital cataract is associated with a CRYGC gene mutation.
23441109 identified a CRYAA mutation in family A and a CRYGC mutation in family B with congenital cataract
22876111 A nonsense mutation c.471G>A in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.
22052681 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.
21436266 Transgenic expression of mutant CRYGC5bpd gamma-crystallin at near-physiological levels causes lens opacities and fiber cell defects, confirming the pathogenicity of this mutation.
21423869 Two novel nonsynonymous variations and four reported variations in CRYAB, CRYGC, CRYGD, and GJA8, were observed.
19390652 Report a new nonsense mutation (Y56X) in CRYGD and a prev'ly reported missense mutation (R12C) in CRYAA associated with nuclear autosomal dominant congenital cataract in Brazilian families. A new polymorphism (S119S) in CRYGC was observed in one family.
19204787 Identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea.
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AA Sequence

MGKITFYEDRAFQGRSYETTTDCPNLQPYFSRCNSIRVESGCWMLYERPNYQGQQYLLRRGEYPDYQQWM      1 - 70
GLSDSIRSCCLIPQTVSHRLRLYEREDHKGLMMELSEDCPSIQDRFHLSEIRSLHVLEGCWVLYELPNYR     71 - 140
GRQYLLRPQEYRRCQDWGAMDAKAGSLRRVVDLY                                        141 - 174
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Text Mined References (41)

PMID Year Title
26165230 2015 Congenital Cataract-Causing Mutation G129C in ?C-Crystallin Promotes the Accumulation of Two Distinct Unfolding Intermediates That Form Highly Toxic Aggregates.
24281366 2014 Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
23954869 2013 A CRYGC gene mutation associated with autosomal dominant pulverulent cataract.
23441109 2013 Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.
22876111 2012 A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.
22052681 2012 A novel mutation impairing the tertiary structure and stability of ?C-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.
21436266 2011 Overexpression of human ?C-crystallin 5 bp duplication disrupts lens morphology in transgenic mice.
21423869 2011 Mutation screening and genotype phenotype correlation of ?-crystallin, ?-crystallin and GJA8 gene in congenital cataract.
20621668 2010 Partially folded aggregation intermediates of human gammaD-, gammaC-, and gammaS-crystallin are recognized and bound by human alphaB-crystallin chaperone.
19390652 2009 Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.
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