Property Summary

NCBI Gene PubMed Count 39
Grant Count 15
R01 Count 12
Funding $2,264,741.5
PubMed Score 74.88
PubTator Score 51.48

Knowledge Summary

Patent

No data available

Expression

Gene RIF (22)

PMID Text
23159606 Despite the disruption of betaB1-crystallin assembly, the thermal stability of betaB1-crystallin was increased by the mutation accompanied by the reduction of thermal aggregation at high temperatures
22267527 Sequencing of this gene revealed a homozygous c.171del mutation (p.N58Tfs*107) with a shared haplotype in all 16 children.
22032798 The formation of beta-crystallin heteromers not only stabilizes the unstable acidic beta-crystallin but also protects them against aggregation during refolding from the stress-denatured states.
21972112 study identified a novel heterozygous p.Ser129Arg mutation in CRYBB1 in a congenital cataract-microcornea syndrome family of Chinese origin
21447408 The presence of significant amounts of small peptides derived from gammaS- and betaB1-crystallins in the water-insoluble fraction of the lens indicates that these interact tightly with cytoskeletal or membrane components.
21402992 Analyses of 20 Chinese families with hereditary nuclear congenital cataract revealed 3 novel mutations. Two of these mutations (V146M and I21N) affected betaB2-crystallin (CRYBB2). One mutation (R233H) was detected in betaB1-crystallin (CRYBB1).
20616077 Data show a significant demixing of gammaD and betaB1 i.e., large difference of composition in the two coexisting phases.
20565250 Variant alleles of the CRYBB1 and CRYBB2 genes were found, none are considered pathogenic.
19548648 Results suggest that the N-terminal arm of betaB1-crystallin interacts with betaA3-crystallin during heterooligomerization, and the solubility of betaB1-crystallin and the heterooligomer are dependent on the intact C-terminal domain of betaB1-crystallin.
19463898 Studies show that The major proteins in the lens--alpha, beta, and gamma-crystallins--are constantly subjected to age-related changes.
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AA Sequence

MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYRLVVFELENFQ      1 - 70
GRRAEFSGECSNLADRGFDRVRSIIVSAGPWVAFEQSNFRGEMFILEKGEYPRWNTWSSSYRSDRLMSFR     71 - 140
PIKMDAQEHKISLFEGANFKGNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEP    141 - 210
GDFRHWNEWGAFQPQMQSLRRLRDKQWHLEGSFPVLATEPPK                                211 - 252
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Text Mined References (40)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
23508780 2013 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
23159606 2013 Increasing ?B1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R.
22267527 2012 Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula.
22032798 2011 The benefits of being ?-crystallin heteromers: ?B1-crystallin protects ?A3-crystallin against aggregation during co-refolding.
21972112 2011 A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the ?B1/?A3-crystallin heteromer but not the ?B1-crystallin homomer.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21447408 2011 Truncation, cross-linking and interaction of crystallins and intermediate filament proteins in the aging human lens.
21402992 2011 Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts.
21044950 2011 Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells.
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