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Myocilin/MYOC Protein, Antibody, ELISA Kit, cDNA Clone

Myocilin/MYOC Related Areas

Myocilin/MYOC Related Pathways

Myocilin/MYOC Related Product

    Myocilin/MYOC Summary & Protein Information

    Myocilin/MYOC Background

    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
    General information above from NCBI
    Subunit structure: Homodimer. Interacts with OLFM3.
    Subcellular location: Rough endoplasmic reticulum. Secreted. Cell projection, cilium. Note=Located preferentially in the ciliary rootlet and basal body of the connecting cilium of photoreceptor cells, and in the rough endoplasmic reticulum. Also secreted.
    Tissue specificity: Expressed in large amounts in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart and other tissues. Expressed predominantly in the retina. In normal eyes, found in the inner uveal meshwork region and the anterior portion of the meshwork. In contrast, in many glaucomatous eyes, it is found in more regions of the meshwork and appeared more intensively than in normal eyes, regardless of the type or clinical severity of glaucoma.
    Post-translational: Different isoforms may arise by post-translational modifications.
    Glycosylated.
    Palmitoylated (By similarity).
    Involvement in disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]: An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. MYOC mutations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease (PubMed:15733270).
    Sequence similarity: Contains 1 olfactomedin-like domain.
    General information above from UniProt

    Myocilin, also known as Trabecular meshwork-induced glucocorticoid response protein, MYOC and GLC1A, is a protein which contains one olfactomedin-like domain. Myocilin / MYOC may participate in the obstruction of fluid outflow in the trabecular meshwork. Myocilin / MYOC is expressed in large amounts in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart and other tissues. Myocilin / MYOC is expressed predominantly in the retina. In normal eyes, it is found in the inner uveal meshwork region and the anterior portion of the meshwork. In contrast, in many glaucomatous eyes, it is found in more regions of the meshwork and appeared more intensively than in normal eyes, regardless of the type or clinical severity of glaucoma. Defects in Myocilin / MYOC may contribute to primary congenital glaucoma type 3A (GLC3A). Defects in MYOC may also contribute to this phenotype via digenic inheritance. GLC3A is an autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early choldhood, large ocular globes (buphthalmos) and corneal edema.

    Myocilin/MYOC Alternative Name

    GLC1A,GPOA,JOAG,JOAG1,Myocilin,TIGR,MYOC, [human]
    AI957332,GLC1A,MGC159032,Myocilin,Myoc,TIGR, [mouse]

    Myocilin/MYOC Related Studies

  • Kubota R., et al., 1997, Genomics 41:360-369.
  • Kubota R., et al., 1998, Biochem. Biophys. Res. Commun. 242:396-400.
  • Ishikawa K., et al., 2004, J. Glaucoma 13:466-471.
  • Bayat,B. et al., 2008, Mol Vis.14 :508-17.
  • Tanwar,M. et al., 2010,  Mol Vis. 16 :1996-2006.
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