MYOC Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Jul 2008]

MYOC: May participate in the obstruction of fluid outflow in the trabecular meshwork. Defects in MYOC are the cause of primary open angle glaucoma type 1A (GLC1A). 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). 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. MYOC variations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease.

Protein type: Secreted; Secreted, signal peptide; Endoplasmic reticulum

Chromosomal Location of Human Ortholog: 1q23-q24

Cellular Component: extracellular matrix; Golgi apparatus; extracellular space; proteinaceous extracellular matrix; mitochondrial outer membrane; rough endoplasmic reticulum; endoplasmic reticulum; cytoplasmic membrane-bound vesicle; mitochondrial inner membrane; mitochondrial intermembrane space; cytoplasmic vesicle; cilium

Molecular Function: protein binding; frizzled binding; fibronectin binding; myosin light chain binding; receptor tyrosine kinase binding

Biological Process: clustering of voltage-gated sodium channels; negative regulation of stress fiber formation; negative regulation of cell-matrix adhesion; skeletal muscle hypertrophy; myelination in the peripheral nervous system; osteoblast differentiation; positive regulation of phosphoinositide 3-kinase cascade; positive regulation of protein kinase B signaling cascade; negative regulation of Rho protein signal transduction; positive regulation of focal adhesion formation; positive regulation of mitochondrial depolarization; regulation of MAPKKK cascade; positive regulation of stress fiber formation; neurite development; positive regulation of cell migration

Disease: Glaucoma 1, Open Angle, A