MYOC
| is a | gene |
| is | mentioned by |
| Full name | myocilin, trabecular meshwork inducible glucocorticoid response |
| EntrezGene | 4653 |
| PheGenI | 4653 |
| VariationViewer | 4653 |
| ClinVar | MYOC |
| GeneCards | MYOC |
| dbSNP | 4653 |
| Diseases | MYOC |
| SADR | 4653 |
| HugeNav | 4653 |
| wikipedia | MYOC |
| MYOC | |
| gopubmed | MYOC |
| EVS | MYOC |
| HEFalMp | MYOC |
| MyGene2 | MYOC |
| 23andMe | MYOC |
| UniProt | Q99972 |
| Ensembl | ENSG00000034971 |
| OMIM | 601652 |
| # SNPs | 28 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5007108 | |||
| i5007109 | |||
| i5007113 | |||
| i5007114 | |||
| i5007115 | |||
| i5007116 | |||
| i5007118 | |||
| i5007120 | |||
| rs121909193 | 4.8 | 171,636,349 | |
| rs121909194 | 4.8 | 171,636,302 | |
| rs137853277 | 0 | 171,636,382 | |
| rs28936694 | 4.8 | 171,636,244 | |
| rs34928744 | 0 | 171,652,737 | |
| rs74315328 | 4.8 | 171,636,131 | |
| rs74315329 | 4.8 | 171,636,338 | |
| rs74315330 | 4.8 | 171,636,331 | |
| rs74315331 | 4.8 | 171,636,010 | |
| rs74315332 | 4.8 | 171,636,000 | |
| rs74315334 | 4.8 | 171,636,341 | |
| rs74315335 | 4.8 | 171,636,430 | |
| rs74315336 | 4.8 | 171,636,173 | |
| rs74315337 | 4.8 | 171,652,476 | |
| rs74315338 | 4.8 | 171,636,143 | |
| rs74315339 | 4.8 | 171,652,468 | |
| rs74315340 | 4.8 | 171,636,706 | |
| rs74315341 | 4.8 | 171,636,686 | |
| rs766501882 | 0 | 171,652,619 | |
| rs878854408 | 4.8 | 171,636,329 |
The MYOC gene on chromosome 1 provides instructions for producing a protein called myocilin. Myocilin is found in certain structures of the eye, called the trabecular meshwork and the ciliary body, that regulate the pressure within the eye (intraocular pressure). It is also found in various types of muscle. Myocilin's function is not well understood, but it may help to control the intraocular pressure through its action in the muscle tissue of the ciliary body.GHR
Dominantly inherited mutations in the MYOC gene may cause a form of primary open-angle glaucoma (POAG). Approximately 10 percent to 33 percent of people with juvenile open-angle glaucoma have mutations in the MYOC gene. MYOC gene mutations have also been detected in some people with primary congenital glaucoma.GHR
