Myocilin (MYOC)

May participate in the obstruction of fluid outflow in the trabecular meshwork.

Myocilin (MYOC) Related Areas

 

Myocilin (MYOC) Alternative Names

Myocilin, MYOC, GLC1A, GPOA, JOAG, JOAG1, TIGR [Homo sapiens]

Myocilin, Myoc, AI957332, GLC1A, MGC159032, TIGR [Mus musculus]

Summaries for Myocilin (MYOC)

Entrez Gene summary for Myocilin (MYOC):

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

OMIM - description for Myocilin (MYOC):

By Northern blot analysis, Fingert et al. (1998) showed that MYOC was expressed as a 2.3-kb transcript not only in eye structures, but also in heart, skeletal muscle, stomach, thyroid, trachea, bone marrow, thymus, prostate, small intestine, and colon, with lower expression in lung, pancreas, testis, ovary, spinal cord, lymph node, and adrenal gland. MYOC was not expressed in brain, placenta, liver, kidney, spleen, or leukocytes. Sequence analysis predicted that GLC1A encodes an approximately 58-kD, 504-amino acid protein with a leucine zipper domain, 10 putative phosphorylation sites, and 4 potential glycosylation sites.

Wikipedia summary for Myocilin (MYOC):

Myocilin, trabecular meshwork inducible glucocorticoid response, also known as MYOC, is a protein which in humans is encoded by the MYOC gene. Mutations in MYOC are a major cause of glaucoma.

Human Myocilin (MYOC) Protein General Information

 

• Protein names: Recommended name: Myocilin
• Sequence length: 504 AA.
• Domain: Coiled coil Signal
• Sequence similarities: Contains 1 olfactomedin-like domain.
• Post-translational modification: Different isoforms may arise by post-translational modifications.

  Glycosylated.

  Palmitoylated

• 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.
• Involvement in disease: Defects in MYOC are the cause of primary open angle glaucoma type 1A (GLC1A) [MIM:137750]. Primary open angle glaucoma (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. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Defects in MYOC are a cause of primary congenital glaucoma type 3A (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 choldhood, 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=MYOC variations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease

General information above from UniProt

Function for Myocilin (MYOC) Protein

UniProtKB:

May participate in the obstruction of fluid outflow in the trabecular meshwork.

Genatlas:

• Myocilin (MYOC) is involved in the morphogenesis of ciliated neuroepithelium such as photoreceptor cells
• Myocilin (MYOC) may have a role(s) in regulating intraocular pressure
• major organizing center of the ciliated epithelium
• Myocilin (MYOC) displays general molecular chaperone activity

Homology for human Myocilin (MYOC)

• ortholog to MYOC, Pan troglodytes
• ortholog to myoc, Danio rerio
• ortholog to Myoc, Mus musculus
• ortholog to Myoc, Rattus norvegicus

Phenotype Information for Myocilin (MYOC)

• Gene/Locus: MYOC, TIGR, GLC1A, JOAG, GPOA
• Phenotype: Glaucoma 1A, primary open angle, juvenile-onset

Phenotype Information for Myocilin (MYOC) from OMIM (Online Mendelian Inheritance in Man)