Recombinant Human Beta-crystallin B1 (CRYBB1)

1. We examined a cohort of Chinese patients with congenital cataracts and studied the phenotypes and genotypes. Extralenticular abnormalities, such as microcornea and ocular coloboma, can also be found in patients with congenital cataracts. The phenotype of congenital cataracts associated with macular and optic disc coloboma was reported for the first time in this study. PMID: 29386872
2. Our findings highlight the importance of the C-terminus in betaB1-crystallin in maintaining the crystalline function and stability, and provide a novel insight into the molecular mechanism underlying the pathogenesis of human autosomal dominant congenital cataract. PMID: 28928627
3. CRYBB1 partial duplication ad complete duplication of CRYBA4 identified in a family with autosomal dominant congenital cataract. PMID: 28272538
4. Molecular dynamic simulation studies indicated that the mutation decreased the subunit binding energy and modified the distribution of surface electrostatic potentials. More importantly, the mutation separated two interacting loops in the C-terminal domain, which shielded the hydrophobic core from solvent in native betaB1-crystallin. PMID: 27318838
5. Congenital microcornea-cataract syndrome-causing mutation X253R increases betaB1-crystallin hydrophobicity to promote aggregate formation PMID: 27208166
6. 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 PMID: 23159606
7. Sequencing of this gene revealed a homozygous c.171del mutation (p.N58Tfs*107) with a shared haplotype in all 16 children. PMID: 22267527
8. study identified a novel heterozygous p.Ser129Arg mutation in CRYBB1 in a congenital cataract-microcornea syndrome family of Chinese origin PMID: 21972112
9. 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. PMID: 22032798
10. 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. PMID: 21447408
11. 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). PMID: 21402992
12. Variant alleles of the CRYBB1 and CRYBB2 genes were found, none are considered pathogenic. PMID: 20565250
13. Data show a significant demixing of gammaD and betaB1 i.e., large difference of composition in the two coexisting phases. PMID: 20616077
14. Mutation G220X is associated with autosomal dominant cataract. PMID: 12360425
15. 1.4 angstroms resolution crystal structure of a truncated version of human betaB1 that resembles an in vivo age-related truncation PMID: 14573871
16. The molecular characterization of a UK family with an autosomal dominant congenital cataract associated with microcornea is reported PMID: 16110300
17. fundamental transcriptional regulatory mechanism of the betaB1-crystallin gene has been well conserved between humans and zebrafish PMID: 16331646
18. the sequence of betaB2-crystallin appears well optimized for domain swapping PMID: 17327390
19. The dimeric intermediate may be a critical determinant for the life-long stability of the beta-crystallins and has important consequences on interactions with alpha-crystallin. PMID: 17448466
20. The current study showed that a different mutation in the same gene causes an autosomal recessive form of the disease. PMID: 17460281
21. study identified a novel mutation in CRYBB1 gene in a Chinese family with autosomal dominant congenital cataract; results provide strong evidence that CRYBB1 is a pathogenic gene for congenital cataract PMID: 17531125
22. This study has identified a novel nonsense mutation in CRYBB1 (p.Q223X) associated with autosomal dominant congenital nuclear cataract. PMID: 18432316
23. study identified an initiation codon mutation in CRYBB1 in a family with autosomal recessive form of congenital cataract (nuclear pulverulent cataract) PMID: 19461930

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HGNC: 2397

OMIM: 600929

KEGG: hsa:1414

STRING: 9606.ENSP00000215939

UniGene: Hs.37135