Identity
HGNC
LOCATION
17q11.2
LOCUSID
ALIAS
CRYB1,CTRCT10
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: 1411
MIM: 123610
HGNC: 2394
Ensembl: ENSG00000108255
Variants:
dbSNP: 1411
ClinVar: 1411
TCGA: ENSG00000108255
COSMIC: CRYBA1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000108255 | ENST00000225387 | P05813 |
| ENSG00000108255 | ENST00000484605 | J3QRT1 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33827296 | 2022 | A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities. | 2 |
| 34489339 | 2022 | Cataract-causing G91del mutant destabilised βA3 heteromers formation linking with structural stability and cellular viability. | 1 |
| 33827296 | 2022 | A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities. | 2 |
| 34489339 | 2022 | Cataract-causing G91del mutant destabilised βA3 heteromers formation linking with structural stability and cellular viability. | 1 |
| 34419537 | 2021 | Pathogenic mechanism of congenital cataract caused by the CRYBA1/A3-G91del variant and related intervention strategies. | 4 |
| 34419537 | 2021 | Pathogenic mechanism of congenital cataract caused by the CRYBA1/A3-G91del variant and related intervention strategies. | 4 |
| 31488069 | 2019 | The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts. | 4 |
| 31488069 | 2019 | The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts. | 4 |
| 29364738 | 2018 | Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract. | 3 |
| 29364738 | 2018 | Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract. | 3 |
| 26022148 | 2016 | βA3/A1-crystallin and persistent fetal vasculature (PFV) disease of the eye. | 8 |
| 26851658 | 2016 | Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells. | 16 |
| 28120589 | 2016 | Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract. | 8 |
| 26022148 | 2016 | βA3/A1-crystallin and persistent fetal vasculature (PFV) disease of the eye. | 8 |
| 26851658 | 2016 | Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells. | 16 |
Citation
Dessen P
CRYBA1 (crystallin beta A1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62101/cryba1-(crystallin-beta-a1)
