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Gene Review

MYOC  -  myocilin, trabecular meshwork inducible...

Homo sapiens

Synonyms: GLC1A, GPOA, JOAG, JOAG1, Myocilin, ...
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Disease relevance of MYOC

  • MYOC mutations included cases of juvenile glaucoma with or without pigmentary glaucoma and mixed-mechanism glaucoma [1].
  • Instead, two polymorphisms in the TIGR gene and three polymorphisms in the OPTN gene, in which one was novel, were found in three phenotypes: POAG, exfoliative glaucoma, and exfoliation syndrome [2].
  • POAG caused by DCV at MYOC has been termed "myocilin glaucoma". Clinically, DCV at MYOC may manifest as a typical POAG, normal tension glaucoma, or ocular hypertension without glaucoma [3].
  • METHODS: Myocilin full length (1-504 amino acids) and two truncated proteins, myocilin 1-270 and 271-504, were expressed and purified from an E. coli strain, Rosetta2(DE3)pLysS [4].
  • The eukaryotic myocilin was purified from cultured medium of a transformed TM cell line (TM5) transduced with feline immunodeficiency virus that contains an internal cassette expressing full length myocilin [4].

Psychiatry related information on MYOC

  • RESULTS: Univariate analysis showed that POAG was related to family history, cardiovascular disease, alcohol consumption and a myocilin sequence alteration (T353I) (P < 0.04) [5].

High impact information on MYOC


Chemical compound and disease context of MYOC


Biological context of MYOC

  • In addition, APOE(-491T), interacting at a highly significant level with an SNP in the MYOC promoter, MYOC(-1000G), is associated with increased intraocular pressure (IOP) and with limited effectiveness of IOP-lowering treatments in patients with POAG [14].
  • This work emphasizes the genetic heterogeneity of juvenile glaucoma and suggests, for the first time, that (1) congenital glaucoma and juvenile glaucoma are allelic variants and (2) the spectrum of expression of MYOC and CYP1B1 mutations is greater than expected [1].
  • Individuals carrying both the MYOC T377M variant and the GLC1C haplotype were more severely affected at an earlier age than individuals with just one of the POAG genes, suggesting that these two genes interact or that both contribute to the POAG phenotype in a cumulative way [15].
  • The goal of this study was to determine whether mutations in the myocilin (MYOC) gene on chromosome 1 are present in two POAG families, which have previously been mapped to the GLC1C locus on chromosome 3 [15].
  • METHODS: The three exons of MYOC were screened by denaturing (d)HPLC [15].

Anatomical context of MYOC


Associations of MYOC with chemical compounds

  • In pulse-labeling experiments that followed nascent MYOC over time, the characteristic doublet observed for MYOC by SDS-PAGE did not change, even in the presence of brefeldin A; indicating that MYOC is not glycosylated and is not released via a traditional secretory mechanism [17].
  • Overexpression of GRbeta in glaucomatous TM cells inhibited DEX induction of a luciferase reporter gene as well as the endogenous genes MYOC and fibronectin [18].
  • Myocilin therefore appears to specifically block functions mediated by the Heparin II domain possibly through direct interactions with it [19].
  • The effect of myocilin on focal adhesions could be overcome by treating cells with either phorbol 12-myristate (PMA) or oleoyl-L-alpha-lysophosphatidic acid (LPA) [19].
  • Colloidal gold labeling was also performed using an anti-human myocilin polyclonal antibody [20].
  • These results demonstrate that myocilin has a de-adhesive activity and triggers signaling events. cAMP/PKA activation and the downstream Rho inhibition are possible mechanisms by which myocilin in overabundance may lead to TM cell or tissue damage [21].

Physical interactions of MYOC


Other interactions of MYOC


Analytical, diagnostic and therapeutic context of MYOC


  1. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Vincent, A.L., Billingsley, G., Buys, Y., Levin, A.V., Priston, M., Trope, G., Williams-Lyn, D., Héon, E. Am. J. Hum. Genet. (2002) [Pubmed]
  2. The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study. Forsman, E., Lemmelä, S., Varilo, T., Kristo, P., Forsius, H., Sankila, E.M., Järvelä, I. Mol. Vis. (2003) [Pubmed]
  3. Genetic dissection of myocilin glaucoma. Gong, G., Kosoko-Lasaki, O., Haynatzki, G.R., Wilson, M.R. Hum. Mol. Genet. (2004) [Pubmed]
  4. Optimized bacterial expression of myocilin proteins and functional comparison of bacterial and eukaryotic myocilins. Park, B.C., Shen, X., Fautsch, M.P., Tibudan, M., Johnson, D.H., Yue, B.Y. Mol. Vis. (2006) [Pubmed]
  5. Genetic and environmental risk factors for primary open-angle glaucoma. Fan, B.J., Leung, Y.F., Wang, N., Lam, S.C., Liu, Y., Tam, O.S., Pang, C.P. Chin. Med. J. (2004) [Pubmed]
  6. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). Alward, W.L., Fingert, J.H., Coote, M.A., Johnson, A.T., Lerner, S.F., Junqua, D., Durcan, F.J., McCartney, P.J., Mackey, D.A., Sheffield, V.C., Stone, E.M. N. Engl. J. Med. (1998) [Pubmed]
  7. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Morissette, J., Clépet, C., Moisan, S., Dubois, S., Winstall, E., Vermeeren, D., Nguyen, T.D., Polansky, J.R., Côté, G., Anctil, J.L., Amyot, M., Plante, M., Falardeau, P., Raymond, V. Nat. Genet. (1998) [Pubmed]
  8. Identification of a gene that causes primary open angle glaucoma. Stone, E.M., Fingert, J.H., Alward, W.L., Nguyen, T.D., Polansky, J.R., Sunden, S.L., Nishimura, D., Clark, A.F., Nystuen, A., Nichols, B.E., Mackey, D.A., Ritch, R., Kalenak, J.W., Craven, E.R., Sheffield, V.C. Science (1997) [Pubmed]
  9. PE/TIGR provokes genome sequencing skeptics. Glaser, V. Nat. Biotechnol. (1998) [Pubmed]
  10. In vitro localization of TIGR/MYOC in trabecular meshwork extracellular matrix and binding to fibronectin. Filla, M.S., Liu, X., Nguyen, T.D., Polansky, J.R., Brandt, C.R., Kaufman, P.L., Peters, D.M. Invest. Ophthalmol. Vis. Sci. (2002) [Pubmed]
  11. Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells. Joe, M.K., Sohn, S., Hur, W., Moon, Y., Choi, Y.R., Kee, C. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
  12. Perfusion of his-tagged eukaryotic myocilin increases outflow resistance in human anterior segments in the presence of aqueous humor. Fautsch, M.P., Bahler, C.K., Vrabel, A.M., Howell, K.G., Loewen, N., Teo, W.L., Poeschla, E.M., Johnson, D.H. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  13. The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma. Baird, P.N., Dickinson, J., Craig, J.E., Mackey, D.A. Am. J. Ophthalmol. (2001) [Pubmed]
  14. Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene. Copin, B., Brézin, A.P., Valtot, F., Dascotte, J.C., Béchetoille, A., Garchon, H.J. Am. J. Hum. Genet. (2002) [Pubmed]
  15. A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability. Petersen, M.B., Kitsos, G., Samples, J.R., Gaudette, N.D., Economou-Petersen, E., Sykes, R., Rust, K., Grigoriadou, M., Aperis, G., Choi, D., Psilas, K., Craig, J.E., Kramer, P.L., Mackey, D.A., Wirtz, M.K. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  16. Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma. Fan, B.J., Leung, D.Y., Wang, D.Y., Gobeil, S., Raymond, V., Tam, P.O., Lam, D.S., Pang, C.P. Arch. Ophthalmol. (2006) [Pubmed]
  17. Extracellular trafficking of myocilin in human trabecular meshwork cells. Hardy, K.M., Hoffman, E.A., Gonzalez, P., McKay, B.S., Stamer, W.D. J. Biol. Chem. (2005) [Pubmed]
  18. Regulation of glucocorticoid responsiveness in glaucomatous trabecular meshwork cells by glucocorticoid receptor-beta. Zhang, X., Clark, A.F., Yorio, T. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  19. Myocilin binding to Hep II domain of fibronectin inhibits cell spreading and incorporation of paxillin into focal adhesions. Peters, D.M., Herbert, K., Biddick, B., Peterson, J.A. Exp. Cell Res. (2005) [Pubmed]
  20. Distribution of myocilin and extracellular matrix components in the juxtacanalicular tissue of human eyes. Ueda, J., Wentz-Hunter, K., Yue, B.Y. Invest. Ophthalmol. Vis. Sci. (2002) [Pubmed]
  21. Rho GTPase and cAMP/protein kinase A signaling mediates myocilin-induced alterations in cultured human trabecular meshwork cells. Shen, X., Koga, T., Park, B.C., SundarRaj, N., Yue, B.Y. J. Biol. Chem. (2008) [Pubmed]
  22. Identification of flotillin-1 as a protein interacting with myocilin: implications for the pathogenesis of primary open-angle glaucoma. Joe, M.K., Sohn, S., Choi, Y.R., Park, H., Kee, C. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
  23. SNPs and Interaction Analyses of Noelin 2, Myocilin, and Optineurin Genes in Japanese Patients with Open-Angle Glaucoma. Funayama, T., Mashima, Y., Ohtake, Y., Ishikawa, K., Fuse, N., Yasuda, N., Fukuchi, T., Murakami, A., Hotta, Y., Shimada, N. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  24. A Genome-wide Scan Maps a Novel Juvenile-Onset Primary Open-Angle Glaucoma Locus to 15q. Wang, D.Y., Fan, B.J., Chua, J.K., Tam, P.O., Leung, C.K., Lam, D.S., Pang, C.P. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  25. Differential occurrence of mutations causative of eye diseases in the Chinese population. Pang, C.P., Lam, D.S. Hum. Mutat. (2002) [Pubmed]
  26. Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients. Weisschuh, N., Neumann, D., Wolf, C., Wissinger, B., Gramer, E. Mol. Vis. (2005) [Pubmed]
  27. Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography. Ishikawa, K., Funayama, T., Ohtake, Y., Tanino, T., Kurosaka, D., Suzuki, K., Ideta, H., Fujimaki, T., Tanihara, H., Asaoka, R., Naoi, N., Yasuda, N., Iwata, T., Mashima, Y. Journal of glaucoma. (2004) [Pubmed]
  28. Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma. Markandaya, M., Ramesh, T.K., Selvaraju, V., Dorairaj, S.K., Prakash, R., Shetty, J., Kumar, A. Ophthalmic Genet. (2004) [Pubmed]
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