CRYGA: Crystallin Gamma A – A Key Lens Protein in Cataract Formation
Comprehensive genomic and proteomic analysis of CRYGA, its role in lens transparency, and association with congenital cataracts.
Gene Information Card
| Symbol | CRYGA |
|---|---|
| Full Name | crystallin gamma A |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.3 |
| NCBI Gene ID | 1418 ncbi.nlm.nih.gov/gene/1418 |
| Ensembl ID | ENSG00000115138 |
| UniProt ID | P11844 |
| OMIM ID | 123660 |
| HGNC ID | 2408 |
| Aliases | CRYG1, CRYGA1, gamma-crystallin A |
Description
CRYGA encodes crystallin gamma A, a member of the gamma-crystallin family. These proteins are major structural components of the vertebrate eye lens, contributing to lens transparency and refractive index. CRYGA is highly expressed in the lens and mutations in this gene are associated with autosomal dominant congenital cataracts, particularly the Coppock-like and zonular pulverulent types.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital cataract (Coppock-like) | Missense mutations disrupt protein folding and aggregation, leading to lens opacity | OMIM #123660; ClinVar |
| Zonular pulverulent cataract | Dominant-negative effect of mutant CRYGA on lens crystallin network | OMIM #123660; PubMed studies |
| Cataract 1, multiple types | Loss of lens transparency due to CRYGA structural defects | ClinVar; HGNC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lens | High | High |
| Retina | Low | Low |
| Testis | Very low | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.1 | Minimal expression |
| HLE-B3 (human lens epithelial) | High | Endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109C>T (p.Arg37Cys) | Missense | Rare | Alters protein stability; associated with cataract |
| c.176G>A (p.Trp59*) | Nonsense | Rare | Truncation; loss of function |
| c.283G>A (p.Gly95Arg) | Missense | Rare | Dominant-negative effect; cataract |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Trp59*) lead to truncated protein and haploinsufficiency.
Gain of Function (GOF)
Not reported for CRYGA.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly95Arg) produce misfolded protein that disrupts crystallin network.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of eye lens (GO:0005212) | • extracellular region (GO:0005576) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • visual perception (GO:0007601) | • eye development (GO:0001654) |
Pathways
• KEGG: hsa04340 – Hedgehog signaling pathway (indirect lens development)
• Reactome: R-HSA-1474244 – Extracellular matrix organization
• Reactome: R-HSA-1474228 – Degradation of the extracellular matrix
Protein Summary
Crystallin gamma A is a 173-amino acid protein with four Greek key motifs forming two beta-sheet domains. It is a water-soluble structural protein that maintains lens transparency through tight packing and short-range order. The protein is highly stable and resistant to aggregation under normal conditions, but mutations can lead to protein misfolding and cataract formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRYGA Knockout HEK293 Cell Line | EDJ-KQ4357 | Human | 1418 | Details Get a Quote |
| CRYGA Knockout HeLa Cell Line | EDJ-KQ52994 | Human | 1418 | Details Get a Quote |
| CRYGA Knockout A-549 Cell Line | EDJ-KQ61461 | Human | 1418 | Details Get a Quote |
| CRYGA Knockout HCT 116 Cell Line | EDJ-KQ69958 | Human | 1418 | Details Get a Quote |
