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MYOC

From SNPedia
is agene
is mentioned by
Full namemyocilin, trabecular meshwork inducible glucocorticoid response
EntrezGene4653
PheGenI4653
VariationViewer4653
ClinVarMYOC
GeneCardsMYOC
dbSNP4653
DiseasesMYOC
SADR4653
HugeNav4653
wikipediaMYOC
googleMYOC
gopubmedMYOC
EVSMYOC
HEFalMpMYOC
MyGene2MYOC
23andMeMYOC
UniProtQ99972
EnsemblENSG00000034971
OMIM601652
# SNPs28
 Max MagnitudeChromosome positionSummary
i5007108
i5007109
i5007113
i5007114
i5007115
i5007116
i5007118
i5007120
rs1219091934.8171,636,349
rs1219091944.8171,636,302
rs1378532770171,636,382
rs289366944.8171,636,244
rs34928744171,652,737
rs743153284.8171,636,131
rs743153294.8171,636,338
rs743153304.8171,636,331
rs743153314.8171,636,010
rs743153324.8171,636,000
rs743153344.8171,636,341
rs743153354.8171,636,430
rs743153364.8171,636,173
rs743153374.8171,652,476
rs743153384.8171,636,143
rs743153394.8171,652,468
rs743153404.8171,636,706
rs743153414.8171,636,686
rs766501882171,652,619
rs8788544084.8171,636,329


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