Identity
HGNC
LOCATION
22q12.1
LOCUSID
ALIAS
CATCN3,CTRCT17
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1414
MIM: 600929
HGNC: 2397
Ensembl: ENSG00000100122
Variants:
dbSNP: 1414
ClinVar: 1414
TCGA: ENSG00000100122
COSMIC: CRYBB1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000100122 | ENST00000647684 | P53674 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37356717 | 2023 | Cataract-causing Y204X mutation of crystallin protein CRYβB1 promotes its C-terminal degradation and higher-order oligomerization. | 0 |
| 37356717 | 2023 | Cataract-causing Y204X mutation of crystallin protein CRYβB1 promotes its C-terminal degradation and higher-order oligomerization. | 0 |
| 34896472 | 2022 | Congenital cataract-causing mutation βB1-L116P is prone to amyloid fibrils aggregation and protease degradation with low structural stability. | 1 |
| 34896472 | 2022 | Congenital cataract-causing mutation βB1-L116P is prone to amyloid fibrils aggregation and protease degradation with low structural stability. | 1 |
| 32223445 | 2021 | A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family. | 2 |
| 32223445 | 2021 | A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family. | 2 |
| 31566446 | 2020 | A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia. | 6 |
| 31566446 | 2020 | A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia. | 6 |
| 28272538 | 2017 | Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract. | 6 |
| 28928627 | 2017 | A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus. | 3 |
| 29386872 | 2017 | Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities. | 13 |
| 28272538 | 2017 | Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract. | 6 |
| 28928627 | 2017 | A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus. | 3 |
| 29386872 | 2017 | Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities. | 13 |
| 27208166 | 2016 | Congenital microcornea-cataract syndrome-causing mutation X253R increases βB1-crystallin hydrophobicity to promote aggregate formation. | 7 |
Citation
Dessen P
CRYBB1 (crystallin beta B1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62104/crybb1-(crystallin-beta-b1)
