CRYGC Gene Summary [Human]
This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others. [provided by RefSeq, Jan 2015]
Details
| Type | Protein Coding |
| Official Symbol | CRYGC |
| Official Name | crystallin gamma C [Source:HGNC Symbol;Acc:HGNC:2410] |
| Ensembl ID | ENSG00000163254 |
| Bio databases IDs | |
| Aliases | crystallin gamma C |
| Synonyms | CCL, CRYG3, Cryg-5, crystallin gamma C, crystallin, gamma C, crystallin γ C, crystallin, γ C, CTRCT2, γ C crystallin |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CRYGC often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- structural constituent of eye lens
- protein binding
- Beta/Gamma crystallin
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- nuclear cataract 2
- Coppock-like cataract 2
- nuclear cataract 2 with microcornea
- congenital cataract
- hereditary disorder
- multiple types cataract 2
- zonular pulverulent cataract 2
- attention deficit hyperactivity disorder
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CRYGC gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- visual perception
- lens development in camera-type eye
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- structural constituent of eye lens