Trabecular meshwork induced glucocorticoid response protein
Trabecular meshwork-induced glucocorticoid response protein
功能May participate in the obstruction of fluid outflow in the trabecular meshwork.
组织特异性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.
疾病相关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 may also contribute to primary congenital glaucoma type 3A (GLC3A) [MIM:231300]. Defects in MYOC may 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. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.
序列相似性Contains 1 olfactomedin-like domain.
翻译后修饰Different isoforms may arise by post-translational modifications. Glycosylated. Palmitoylated.
细胞定位Rough endoplasmic reticulum. Secreted. Cell projection > cilium. Located preferentially in the ciliary rootlet and basal body of the connecting cilium of photoreceptor cells, and in the rough endoplasmic reticulum. Also secreted.