MYOC / Myocilin Recombinant Protein | MYOC recombinant protein

Recombinant Human MYOC / Myocilin Protein (His tag)

Cat. Num. AAA2545411

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

• Host: Human Cells
• Purity/Purification: > 95 % as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH 7.4
• Sequence Length: 504

• Application Notes: The secreted recombinant human MYOC consists of 483 amino acids and has a predicted molecular mass of 54.7 kDa. Since most of the MYOC was cleaved at Glu 214, generating a C-terminal fragment of 32 kDa, the purified human MYOC migrates as an approximately 33 kDa band in SDS-PAGE under reducing conditions.
• Predicted N Terminal: Glu 214
• Endotoxin: < 1.0 EU per mug of the protein as determined by the LAL method
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -70 degree C

SDS-PAGE

Related Product Information for MYOC recombinant protein

Background: Myocilin, also known as Trabecular meshwork-induced glucocorticoid response protein, MYOC and GLC1A, is a protein which 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 type s 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 or 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 marked increase of intraocular pressure at birth or early choldhood, large ocular globes (buphthalmos) and corneal edema.

Description: 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.

NCBI and Uniprot Product Information

• NCBI GI #: 4557779
• NCBI GeneID: 4653
• NCBI Accession #: NP_000252.1
• NCBI GenBank Nucleotide #: NM_000261.1
• UniProt Accession #: Q99972; O00620; Q7Z6Q9; B2RD84
• Molecular Weight: 56,972 Da
• NCBI Official Full Name: myocilin
• NCBI Official Synonym Full Names: myocilin
• NCBI Official Symbol: MYOC
• NCBI Official Synonym Symbols: GPOA; JOAG; TIGR; GLC1A; JOAG1
• NCBI Protein Information: myocilin
• UniProt Protein Name: Myocilin
• Protein Family: Myocilin
• UniProt Gene Name: MYOC

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: Endoplasmic reticulum; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 1q24.3

Cellular Component: cytoplasmic vesicle; endoplasmic reticulum; extracellular matrix; extracellular space; Golgi apparatus; mitochondrial inner membrane; mitochondrial intermembrane space; mitochondrial outer membrane

Molecular Function: fibronectin binding; frizzled binding; myosin light chain binding; protein 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