myocilin

Myocilin is a protein encoded by the MYOC gene. It is primarily found in the trabecular meshwork of the eye, a specialized tissue responsible for draining aqueous humor from the anterior chamber. The exact function of myocilin is not fully understood, but it is believed to play a role in maintaining the structural integrity and function of the trabecular meshwork. It is a secreted protein and has been found in both intracellular and extracellular locations.

Mutations in the MYOC gene are a significant cause of primary open-angle glaucoma (POAG), a common form of glaucoma characterized by progressive damage to the optic nerve. These mutations often lead to changes in the myocilin protein, which can disrupt the normal drainage of aqueous humor, leading to increased intraocular pressure. Elevated intraocular pressure is a major risk factor for optic nerve damage and vision loss in glaucoma. While mutations in MYOC are responsible for a substantial portion of inherited POAG, other genes also contribute to the disease. Research continues to explore the precise mechanisms by which myocilin dysfunction contributes to glaucoma pathogenesis.