Myocilin (MYOC)

The MYOC gene encodes myocilin, a secreted glycoprotein highly expressed in the eye's trabecular meshwork and ciliary body, structures important for regulating intraocular pressure. Although its precise molecular function is not fully understood, myocilin is thought to support cytoskeletal integrity and extracellular matrix organization, possibly influencing cell adhesion, migration, and programmed cell death in ocular tissues. Mutations in MYOC, particularly in its C-terminal olfactomedin domain, are a significant genetic cause of primary open-angle glaucoma and juvenile open-angle glaucoma, where misfolded or aggregated protein disrupts aqueous humor outflow, leading to increased intraocular pressure and progressive optic nerve damage. Myocilin is also expressed at lower levels in other tissues (such as heart and skeletal muscle), but pathological effects are seen almost exclusively in the eye. There are currently no approved therapies that directly target myocilin, but genetic testing for MYOC mutations supports early diagnosis and risk assessment in familial glaucoma cases.

Other names

Trabecular meshwork inducible glucocorticoid response protein (TIGR)JOAG1juvenile-onset open-angle glaucoma 1GLC1A

Stabilization of misfolded mutant myocilin; Modulation of secretion or degradation of myocilin; Reduction in cellular stress and oxidative injury associated with mutant myocilin accumulation