Recombinant Human Beta-crystallin B2 (CRYBB2)

1. conserved Trp residues might play a more crucial role in the correct folding and structural integrity of beta-crystallin domains than in gamma-crystallins PMID: 28528950
2. The first pregnancy was terminated in week 22. Copy number variation analysis revealed, in both the aborted fetus and the mother, a 495 kb duplication at 22q11.23 encompassing CRYBB3 and CRYBB2 PMID: 27256633
3. Study demonstrates that, in solution, human betaB2-crystallin is not domain swapped and exhibits a face-en-face dimer structure similar to the crystal structure of truncated betaB1-crystallin. PMID: 28238532
4. This is the first study to analyze the association between genetic variations in the CRYBB2 gene with PCa. rs9608380, associated with Prostate cancer, is a potentially functional variant PMID: 25964531
5. Congenital cataracts were caused by the de novo gene conversion event in CRYBB2 in a consanguineous Jewish Ashkenazi family. PMID: 25489230
6. missense mutation in CRYBB2 gene leads to progressive congenital membranous cataract by impacting the solubility and function of betaB2-crystallin PMID: 24312286
7. The distinct behaviors of the mutants suggested that the residue at position 188 might play a regulatory role in betaB2-crystallin aggregation/fibrillization but not reside in the core of the aggregates/fibrils. PMID: 24704203
8. The last strand at the C-terminus of CRYBB2 is important for the protein stability and assembly. PMID: 24120835
9. Identification of the first CRYBB2 mutation in an Italian family causing a clinical picture of autosomal dominant congenital cataract. PMID: 22846113
10. The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of betaB2-crystallin. PMID: 23236454
11. A novel missense mutation, p.Arg188His, in CRYBB2 is associated with congenital cataract in a family of Croatian origin. PMID: 22312185
12. The Asp residue at position 4 of betaB2-crystallin in the lenses of the aged human eye lenses undergoes a significant degree of inversion and isomerization to the biologically D-beta-Asp. PMID: 21877723
13. analysis of a novel CRYBB2 gene mutation, resulting in the amino substitution p. A2V in a Chinese family with posterior subcapsular congenital cataracts PMID: 21245961
14. a novel cataract-causing mutation, c.92C>G in exon 2 of the CRYBB2 gene, which causes the 31st residue serine substituted by tryptophan (S31W), was identified in an autosomal dominant coronary cataract family. PMID: 18617901
15. Two new mutations, one in GJA3 and the other in CRYBB2, were identified co-segregating along with the respective cataract phenotype within the families that were not seen in healthy controls from India or Germany. PMID: 21031021
16. calculation of the standard free-energy by equilibrium unfolding transition in guanidine hydrochloride PMID: 12457849
17. Results show that betaB2-crystallin undergoes age-related truncation producing fragments with M(r) between 4 and 19kDa that are present in the beta(H)-crystallin oligomer. PMID: 12535638
18. Exon 6 of CRYBB2 appears to be a critical region susceptible for mutations leading to lens opacity. PMID: 15452067
19. Our finding expands the spectrum of cataract phenotypes caused by the Q155X mutation of CRYBB2, confirms the phenotypic heterogeneity of this mutation and suggests the mechanism that influences the congenital cataract formation. PMID: 16179907
20. The V60E and V144E mutants were found to be partially unfolded and incapable of forming a complete dimer. PMID: 16319073
21. These results suggest that deamidation at critical sites destabilizes betaB2 and may disrupt the function of betaB2 in the lens. PMID: 16519509
22. Cataracts in ADC53 Chilean family are caused by mutation in CRYBB2 gene; as 2 variations in CRYBB2 are identical to reference sequence of pseudogene CRYBB2P1, which has over 97% homology to CRYBB2, a gene conversion probably has occurred. PMID: 17234267
23. the CRYBB2 D128V mutation segregates only in family members affected with congenital cataracts and is not seen in representative controls; it represents the first mutation outside exon 6 of the human CRYBB2 gene PMID: 17653036
24. combined with previously reported observations of alpha-crystallin quaternary structure have led us to propose a structural model of how activated alpha-crystallin chaperones unfolded betaB2-crystallin PMID: 17937660
25. These results provide evidence that CRYBB2 is a pathogenic gene for congenital cataracts; at the same time, congenital cataracts are a clinically and genetically heterogeneous lens condition. PMID: 18449377
26. This is the first report of congenital cerulean cataract associated with a mutation in CRYBB2 in a Chinese family. PMID: 19321936
27. This study identified a missense mutation in CRYBB2 in a family of Basotho with autosomal dominant congenital cataract (ADCC). PMID: 19649175

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HGNC: 2398

OMIM: 123620

KEGG: hsa:1415

STRING: 9606.ENSP00000381273

UniGene: Hs.373074