Myocilin (MYOC) Antibody – Rabbit Polyclonal

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, signal peptide; Secreted; Endoplasmic reticulum

Chromosomal Location of Human Ortholog: 1q23-q24

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

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

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

Disease: Glaucoma 1, Open Angle, A