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Rabbit Anti-Myocilin antibody
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]
Function:
May participate in the obstruction of fluid outflow in the trabecular meshwork.
Subcellular Location:
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.
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 modifications:
Different isoforms may arise by post-translational modifications.
Glycosylated.
Palmitoylated.
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 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.
Similarity:
Contains 1 olfactomedin-like domain.
SWISS:
Q99972
Gene ID:
4653
Database links:
Entrez Gene: 4653 Human
Entrez Gene: 17926 Mouse
Entrez Gene: 81523 Rat
Omim: 601652 Human
SwissProt: Q99972 Human
SwissProt: O70624 Mouse
SwissProt: Q9R1J4 Rat
Unigene: 47237 Human
Unigene: 10694 Mouse
Unigene: 30051 Rat
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