myocilin

MYOC

A gene on chromosome 1q23-q24 that encodes myocilin, a protein thought to play a role in cytoskeletal function, which is highly expressed in ocular tissues including the trabecular meshwork, which regulates intraocular pressure.

Molecular pathology
MYOC mutations cause hereditary juvenile-onset open-angle glaucoma.

myocilin

(mī″ō-sĭl′ĭn)
A glycoprotein that influences or regulates intraocular pressure. Mutations in the myocilin gene are found in some people with glaucoma.
References in periodicals archive ?
Myocilin is a protein produced in the eye, but its role is not clear.
Further tests showed that this binding to the myocilin blocked the formation of the protein clumps.
OLFM3 is an olfatomedin-related protein that interacts with myocilin (Torrado et al.
Sodium 4-Phenylbutyrate Acts as a Chemical Chaperone on Misfolded Myocilin to Rescue Cells from Endoplasmic Reticulum Stress and Apoptosis.
10 years) primary angle closure glaucoma (PACG) for (i) analyzing mutations in myocilin (MYOC) gene, (ii) inheritance pattern of MYOC gene, (iii) comparing the frequency of MYOC gene in northern and southern population, and (iv) detect genotype and phenotype correlation based on mutations.
The suitability of DNA extracted from tissue sections was confirmed by the amplification of the cellular gene Myocilin, using primers capable of amplifying conserved 200 bp of coding sequence (primer sequence in the Table).
Papers includes the age and racial variations, risk factors for open-angle glaucoma, risk factors in various isolated populations, mechanisms of intraocular pressure elevation, genetics of glaucoma (including susceptibility and myocilin mutations), molecular and cellular responses in the eye to glaucoma, ocular tissue and psycho-physiological responses, current and successful models, and therapeutic modalities.
Kubota, a world-renowned ophthalmologist and the discoverer of the glaucoma gene, myocilin, founded Acucela in 2002 and is profiled in the PharmaVoice 100 Commanders in Chiefs section as an innovative company builder and leader.
The chromosomal locations of several genes, notably optineurin (OPTN) and myocilin (MYOC), that can independently cause the disease have been mapped, indicating that a proportion of cases of glaucoma is caused by single gene defects.
A major gene linked to primary open angle glaucoma (POAG) is the gene coding for the protein myocilin and this gene locus (GLC1A) probably accounts for 10-33% of juvenile cases.
The manuscript entitled, "Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene," was based on a retrospective study involving 191 patients with primary open-angle glaucoma (POAG).