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

Gene: MYOCOS

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs1200513428 in MYOC;MYOCOS gene and GLAUCOMA 1, OPEN ANGLE, A PMID 10340788 1999 Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma.

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

PMID 11004290 2000 Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle 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 10873982 2000 Genetic screening in a large family with juvenile onset primary open angle glaucoma.

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

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

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

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

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

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

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

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

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

PMID 9005853 1997 Identification of a gene that causes primary open angle glaucoma.

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 15255110 2004 Genetic analysis of an Indian family with members affected with juvenile-onset 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 16401791 2006 Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

rs74315329 in MYOC;MYOCOS gene and Glaucoma PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

rs74315329 in MYOC;MYOCOS gene and Glaucoma, Primary Open Angle PMID 22933836 2012 Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.

PMID 23304066 2012 To describe the phenotype of ocular hypertension and primary open-angle glaucoma in a family with individuals compound heterozygote for Gln368STOP and Thr377Met myocilin (MYOC) mutations.

PMID 9005853 1997 Identification of a gene that causes primary open angle glaucoma.

PMID 24732711 2014 Cellular processing of myocilin.

PMID 17562996 2007 Myocilin variants in Indian patients with open-angle glaucoma.

PMID 9639450 1998 A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia.

PMID 17615537 2007 Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.

PMID 20021252 2010 In the primary open angle glaucoma family described here, we documented a wide range in clinical symptoms, demonstrating a highly variable penetrance of the MYOC p.Gln368X mutation.

PMID 11803488 2001 Ten occurrences of four different sequence changes were detected, including: 1) five times the same disease-causing mutation (Q368X) in five unrelated POAG patients and 2) three distinct polymorphisms in five patients.

PMID 10815160 2000 We identified the Gln368stop molecular defect in 19 patients with POAG, 5 patients with ocular hypertension, and 22 healthy carriers.

PMID 11535458 2001 For Gln368STOP carriers, age-related penetrance for OHT or POAG was 72% at age 40 years and 82% at age 65 years.

PMID 11815346 2002 Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.

PMID 19023451 2008 Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin.

PMID 12872267 2003 A single mutation, Q368X (c.1102C>T), accounted for the majority (12/17) of these mutations, corresponding to a frequency of 5% among POAG patients, the highest ever reported for this mutation.

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