Property Summary

NCBI Gene PubMed Count 26
Grant Count 11
R01 Count 11
Funding $2,699,568
PubMed Score 142.56
PubTator Score 7.78

Knowledge Summary

Patent

No data available

Gene RIF (9)

PMID Text
26552302 Allelic variant frequency of the gamma-crystallin promoter (g(-47) ->a) affects the level of its expression in platelets from cataract patients.
23288985 Complex heterogeneous mutations in the gammaB crystallin gene have been described resulting in autosomal dominant congenital cataracts with three distinct phenotypes (lamellar, anterior polar, and complete cataracts) in the same family.
21941057 -47C allele of rs2289917 in CRYGB showed the strongest association with cataract.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20621668 The alphaB-crystallin oligomers formed long-lived stable complexes with their gammaD-crystallin substrates.
19384013 This study establishes baseline frequency data for four SNPs in CRYGA and CRYGB genes for future case control studies on the role of these SNPs in the genetic basis of cataract.
19384013 Observational study of genotype prevalence. (HuGE Navigator)
14517968 Possible sites for posttranslational modifications in gamma B crystallin.
12876325 In gammaD-crystallin, methylation is exclusively at Cys 110, whereas in gammaC- and gammaB-crystallins, the principal methylation site is Cys 22 with minor methylation at Cys 79

AA Sequence

MGKITFYEDRAFQGRSYECTTDCPNLQPYFSRCNSIRVESGCWMIYERPNYQGHQYFLRRGEYPDYQQWM      1 - 70
GLSDSIRSCCLIPPHSGAYRMKIYDRDELRGQMSELTDDCISVQDRFHLTEIHSLNVLEGSWILYEMPNY     71 - 140
RGRQYLLRPGEYRRFLDWGAPNAKVGSLRRVMDLY                                       141 - 175
//

Text Mined References (27)

PMID Year Title
26552302 2015 [ALLELIC VARIANT FREQUENCY OF PROMOTER (G(-47)-->A) ?-CRYSTALLIN GENE AFFECTS THE LEVEL OF ITS EXPRESSION IN PLATELETS].
23288985 2012 Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.
21941057 Polymorphisms of the gamma crystallin A and B genes among Indian patients with pediatric cataract.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20621668 2010 Partially folded aggregation intermediates of human gammaD-, gammaC-, and gammaS-crystallin are recognized and bound by human alphaB-crystallin chaperone.
19384013 Analysis of single nucleotide polymorphisms of CRYGA and CRYGB genes in control population of western Indian origin.
17628592 2007 Affilin-novel binding molecules based on human gamma-B-crystallin, an all beta-sheet protein.
16368877 2006 Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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