External Ids for OPTC Gene
Previous GeneCards Identifiers for OPTC Gene
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]
GeneCards Summary for OPTC Gene
OPTC (Opticin) is a Protein Coding gene. Diseases associated with OPTC include Vitreous Detachment and Posterior Column Ataxia. Among its related pathways are Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is LRWD1.
UniProtKB/Swiss-Prot Summary for OPTC Gene
Binds collagen fibrils.