CRYGC: Crystallin Gamma C
A key structural lens protein associated with congenital cataracts
Gene Information Card
| Symbol | CRYGC |
|---|---|
| Full Name | crystallin gamma C |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.3 |
| NCBI Gene ID | 1420 ncbi.nlm.nih.gov/gene/1420 |
| Ensembl ID | ENSG00000163220 |
| UniProt ID | P07315 |
| OMIM ID | 123660 |
| HGNC ID | 2410 |
| Aliases | CRYG5, CTRCT2, gamma-crystallin C |
Description
CRYGC encodes gamma-crystallin C, a structural protein highly expressed in the eye lens. It contributes to lens transparency and refractive index. Mutations in CRYGC are a known cause of autosomal dominant congenital cataracts, often presenting as lamellar or pulverulent opacities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital cataract (autosomal dominant) | Missense mutations disrupt protein folding and solubility, leading to lens opacification | ClinVar, OMIM |
| Cataract 2 (CTRCT2) | Specific variants (e.g., p.Trp157Cys) cause dominant-negative effects on crystallin assembly | OMIM #123660 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lens | High | Tissue-specific |
| Retina | Low | Detectable |
| Brain | Not detected | - |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 | Not expressed | Retinal pigment epithelium |
| HLE-B3 | High | Human lens epithelial cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.470G>C (p.Trp157Cys) | Missense | Rare | Dominant cataract; disrupts protein stability |
| c.109G>A (p.Gly37Arg) | Missense | Rare | Cataract; altered folding |
| c.43C>T (p.Arg15Trp) | Missense | Rare | Cataract; reduced solubility |
Mutation functional classification
Loss of Function (LOF)
Not established; most cataract-associated CRYGC mutations are dominant-negative or gain-of-function.
Gain of Function (GOF)
Aggregation-prone variants may gain toxic function by forming insoluble aggregates.
Dominant Negative (DN)
Common mechanism; mutant gamma-crystallin interferes with wild-type protein assembly, causing lens opacity.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of eye lens | • protein homooligomerization |
| • lens development in camera-type eye | • visual perception |
Pathways
• Crystallin aggregation in cataract formation
• Lens fiber cell differentiation
Protein Summary
Gamma-crystallin C is a 174-amino-acid protein with four Greek-key motifs forming two domains. It is a major component of the lens cytoplasm, maintaining transparency through tight packing. Mutations often affect conserved tryptophan residues, leading to aggregation and cataract.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRYGC Knockout HEK293 Cell Line | EDJ-KQ4360 | Human | 1420 | Details Get a Quote |
| CRYGC Knockout HeLa Cell Line | EDJ-KQ52996 | Human | 1420 | Details Get a Quote |
| CRYGC Knockout A-549 Cell Line | EDJ-KQ61463 | Human | 1420 | Details Get a Quote |
| CRYGC Knockout HCT 116 Cell Line | EDJ-KQ69960 | Human | 1420 | Details Get a Quote |
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