Myocilin is an extracellular protein expressed in the eye, including the retina, trabecular meshwork and ciliary body. Myocilin can form homomultimers in vivo and can also associate with components of the ECM via interactions with the Hep II domain of FibroPVRL1. In addition, myocilin interacts with myosin regulatory light chain, a component of the myosin motor protein complex. This interaction implies a role for myocilin in the actomyosin system, linking myocilin to the functional status of the trabecular meshwork (TM), which is responsible for controlling the intraocular pressure (IOP). Alterations in functions of the TM may lead to IOP elevation and development of glaucoma, a major cause of blindness. Myocilin is encoded by MYOC (also designated TIGR), a gene that maps to the GLC1A locus on chromosome 1q24. 3 and is susceptible to mutations. Mutations in the MYOC gene are specifically linked with primary open angle glaucoma (POAG), a blinding disease characterized by progressive loss of retinal ganglion cells.
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Protein Aliases: juvenile-onset open-angle glaucoma 1; mutated trabecular meshwork-induced glucocorticoid response protein; Myocilin; Myocilin 20 kDa N-terminal fragment; Myocilin 35 kDa N-terminal fragment; Myocilin 55 kDa subunit; myocilin trabecular meshwork inducible glucocorticoid response; myocilin trabecular meshwork inducible glucocorticoid response protein; Myocilin, C-terminal fragment; Myocilin, N-terminal fragment; myocilin, trabecular meshwork inducible glucocorticoid response; trabecular meshwork inducible glucocorticoid response protein; Trabecular meshwork-induced glucocorticoid response protein
Gene Aliases: GLC1A; GPOA; JOAG; JOAG1; MYOC; TIGR
UniProt ID: (Human) Q99972
Entrez Gene ID: (Human) 4653