Recombinant Human Myocilin protein (ab116837)

Overview

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionQ99972
    • SpeciesHuman
    • SequenceQLRKANDQSGRCQYTFSVASPNESSCPEQSQAMSVIHNLQRDSSTQRLDL EATKARLSSLESLLHQLTLDQAARPQETQEGLQRELGTLRRERDQLETQT
    • Molecular weight37 kDa including tags
    • Amino acids36 to 135

Specifications

Our Abpromise guarantee covers the use of ab116837 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • FormLiquid
  • Additional notesProtein concentration is above or equal to 0.05 mg/ml.
    Best use within three months from the date of receipt of this protein.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • GLC1A
    • GPOA
    • JOAG
    • JOAG1
    • Mutated trabecular meshwork-induced glucocorticoid response protein
    • MYOC
    • MYOC_HUMAN
    • Myocilin
    • Myocilin, trabecular meshwork inducible glucocorticoid
    • TIGR
    • Trabecular meshwork induced glucocorticoid response protein
    • Trabecular meshwork-induced glucocorticoid response protein
    see all
  • FunctionMay participate in the obstruction of fluid outflow in the trabecular meshwork.
  • Tissue specificityExpressed 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.
  • Involvement in diseaseDefects 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.
  • Sequence similaritiesContains 1 olfactomedin-like domain.
  • Post-translational
    modifications
    Different isoforms may arise by post-translational modifications.
    Glycosylated.
    Palmitoylated.
  • Cellular localizationRough 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.
  • Information by UniProt

Recombinant Human Myocilin protein images

  • 12.5% SDS-PAGE stained with Coomassie Blue showing ab116837 at approximately 36.63 kDa.

References for Recombinant Human Myocilin protein (ab116837)

ab116837 has not yet been referenced specifically in any publications.

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