Gene: MYOC

Alternate names for this Gene: GLC1A|GPOA|JOAG|JOAG1|TIGR

Gene Summary: MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma.

Gene is located in Chromosome: 1

Location in Chromosome : 1q24.3

Description of this Gene: myocilin

Type of Gene: protein-coding

rs74315339 in MYOC gene and GLAUCOMA 1, OPEN ANGLE, A PMID 9005853 1997 Identification of a gene that causes primary open angle glaucoma.

PMID 17499207 2007 Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.

PMID 15025728 2004 Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients.

PMID 10873982 2000 Genetic screening in a large family with juvenile onset primary open angle glaucoma.

PMID 9792882 1998 Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma.

PMID 11004290 2000 Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.

PMID 9697688 1998 Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma.

PMID 15534471 2004 Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography.

PMID 9521427 1998 Novel mutations in the TIGR gene in early and late onset open angle glaucoma.

PMID 17210859 2007 Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.

PMID 16401791 2006 Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

PMID 15255110 2004 Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma.

PMID 9490287 1998 Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis.

PMID 12860809 2003 Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.

PMID 10340788 1999 Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma.

PMID 10196380 1999 Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.

PMID 12362081 2002 Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa.

PMID 12872267 2003 Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation.

PMID 10916185 2000 Mutations in the third exon of the MYOC gene in spanish patients with primary open angle glaucoma.

PMID 12189160 2002 Founder TIGR/myocilin mutations for glaucoma in the Québec population.

rs74315339 in MYOC gene and GLAUCOMA 3, PRIMARY CONGENITAL, A PMID 15733270 2005 Myocilin gene implicated in primary congenital glaucoma.