CRYBB1: Crystallin Beta B1
A key structural lens protein associated with congenital cataracts
Gene Information Card
| Symbol | CRYBB1 |
|---|---|
| Full Name | Crystallin Beta B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.1 |
| NCBI Gene ID | 1415 ncbi.nlm.nih.gov/gene/1415 |
| Ensembl ID | ENSG00000100105 |
| UniProt ID | P53674 |
| OMIM ID | 600929 |
| HGNC ID | 2397 |
| Aliases | CTRCT17, CRYB1, MGC141939 |
Description
CRYBB1 encodes beta-crystallin B1, a structural protein of the eye lens. Beta-crystallins, along with gamma-crystallins, form the major water-soluble proteins in the lens, maintaining transparency and refractive index. Mutations in CRYBB1 are associated with autosomal dominant congenital cataracts, often of the pulverulent or nuclear type.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital cataract (autosomal dominant) | Missense or truncating mutations disrupt protein folding and lens transparency, leading to opacity | ClinVar, OMIM #600929 |
| Cataract 17, multiple types | Mutations in CRYBB1 cause pulverulent, nuclear, or lamellar cataracts | OMIM #611544 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lens | High | High |
| Retina | Low | Low |
| Testis | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.1 | Low expression |
| HLE-B3 (human lens epithelial) | High | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.403C>T (p.Arg135Trp) | Missense | Rare | Dominant congenital cataract |
| c.493C>T (p.Arg165Ter) | Nonsense | Rare | Truncation, loss of function, cataract |
| c.272G>A (p.Arg91His) | Missense | Rare | Dominant cataract |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg165Ter) cause haploinsufficiency, leading to cataract.
Gain of Function (GOF)
Not reported for CRYBB1.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg135Trp) produce misfolded proteins that aggregate and disrupt lens transparency.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of eye lens | • protein homodimerization activity |
| • identical protein binding | • lens development in camera-type eye |
| • visual perception |
Pathways
• Lens crystallin pathway
• Protein folding in lens
Protein Summary
Beta-crystallin B1 is a 252-amino acid protein that forms homodimers and heterodimers with other beta-crystallins. It contains four Greek key motifs typical of the beta/gamma-crystallin superfamily. The protein is highly expressed in the lens and contributes to its refractive properties. Mutations cause protein aggregation and cataract formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRYBB1 Knockout HEK293 Cell Line | EDJ-KQ4353 | Human | 1414 | Details Get a Quote |
| CRYBB1 Knockout HeLa Cell Line | EDJ-KQ52991 | Human | 1414 | Details Get a Quote |
| CRYBB1 Knockout A-549 Cell Line | EDJ-KQ61458 | Human | 1414 | Details Get a Quote |
| CRYBB1 Knockout HCT 116 Cell Line | EDJ-KQ69955 | Human | 1414 | Details Get a Quote |
