OPTC Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
OPTC
Official Name
opticin [Source:HGNC Symbol;Acc:HGNC:8158]
Ensembl ID
ENSG00000188770
Bio databases IDs NCBI: 26254 Ensembl: ENSG00000188770
Aliases opticin, oculoglycan
Synonyms OPT, opticin
Species
Human, Homo sapiens
OrthologiesMouseRat

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 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.
disease
  • age-related macular degeneration
  • choroidal neovascularization
regulated by
role in cell
  • organization

Subcellular Expression

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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