OPTC

Description

The OPTC (opticin) is a protein-coding gene located on chromosome 1.

Opticin is a protein encoded by the OPTC gene in humans. It belongs to the small leucine-rich repeat protein (SLRP) family, specifically class III, and is commonly associated with the extracellular matrix. Opticin is abundant in the vitreous humor of the eye and is also found in the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. It may bind collagen fibrils noncovalently and regulate their morphology, spacing, and organization. The OPTC gene is located on chromosome 1 in a region linked to the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1).

Opticin inhibits angiogenesis in the vitreous humor of the eye, thereby repressing neovascularization. It binds collagen fibrils and potentially plays a role in collagen fiber organization by regulating other members of the small leucine-rich repeat proteoglycan superfamily.

OPTC is also known as OPT.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing