Myocilin Recombinant Protein | MYOC recombinant protein

Myocilin Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121266

• Gene Names: MYOC; GPOA; JOAG; TIGR; GLC1A; JOAG1; myocilin
• Purity: >95% as determined by SDS-PAGE
• Synonyms: Myocilin; Myocilin Protein; Human; Recombinant (His Tag); Human MYOC/Myocilin Protein (His Tag); GLC1A Protein; GPOA Protein; JOAG Protein; JOAG1 Protein; myocilin Protein; TIGR Protein; myocilin; trabecular meshwork inducible glucocorticoid response; MYOC recombinant protein

• Host: HEK293 Cells
• Purity/Purification: >95% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH7.4. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Met1-Met504

• Species: Human
• Endotoxin: <1.0EU per ug of the protein as determined by the LAL method
• Predicted N Terminal: Glu 214
• Tag: C-His
• Protein Construction: A DNA sequence encoding the full length of human MYOC (Q99972)(Met 1-Met 504) was fused with a polyhistidine tag at the C-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

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Related Product Information for MYOC recombinant protein

Background: Myocilin, also known as Trabecular meshwork-induced glucocorticoid response protein, MYOC, and GLC1A, is a protein that contains one olfactomedin-like domain. Myocilin/MYOC may participate in the obstruction of fluid outflow in the trabecular meshwork. Myocilin/MYOC is expressed in large amounts in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, and other tissues. Myocilin/MYOC is expressed predominantly in the retina. In normal eyes, it is 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 of clinical severity of glaucoma. Defects in Myocilin/MYOC may contribute to primary congenital glaucoma type 3A (GLC3A). Defects in MYOC may also contribute to this phenotype via digenic inheritance. GLC3A is an autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by a marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos), and corneal edema.

References

Kubota R., et al., 1997, Genomics 41:360-369. Kubota R., et al., 1998, Biochem. Biophys. Res. Commun. 242:396-400. Ishikawa K., et al., 2004, J. Glaucoma 13:466-471. Bayat,B. et al., 2008, Mol Vis.14 :508-17. Tanwar,M. et al., 2010, Mol Vis. 16 :1996-2006.

NCBI and Uniprot Product Information

• NCBI GI #: 3024209
• NCBI GeneID: 4653
• UniProt Accession #: Q99972; O00620; Q7Z6Q9; B2RD84
• Molecular Weight: 504
• NCBI Official Full Name: Myocilin
• NCBI Official Synonym Full Names: myocilin, trabecular meshwork inducible glucocorticoid response
• NCBI Official Symbol: MYOC
• NCBI Official Synonym Symbols: GPOA; JOAG; TIGR; GLC1A; JOAG1; myocilin
• NCBI Protein Information: myocilin; myocilin 55 kDa subunit; mutated trabecular meshwork-induced glucocorticoid response protein
• UniProt Protein Name: Myocilin
• Protein Family: Myocilin
• UniProt Gene Name: MYOC
• UniProt Synonym Gene Names: GLC1A; TIGR
• UniProt Entry Name: MYOC_HUMAN

NCBI Description

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]

Uniprot Description

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