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Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). [provided by RefSeq, Jul 2008]
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 OPTC often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
protein phosphatase 1 regulatory subunit 42
extracellular matrix structural constituent
Leucine rich repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
Extracellular Space
extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human OPTC gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
negative regulation of angiogenesis
angiogenesis
collagen fibril organization
bone development
Cellular Component
Where in the cell the gene product is active
extracellular matrix
extracellular region
Molecular Function
What the gene product does at the molecular level
extracellular matrix structural constituent
Gene-Specific Assays for Results You Can Trust
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