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FLASH GENE
Symbol MYOC contributors: shn - updated : 18-04-2012
HGNC name myocilin, trabecular meshwork inducible glucocorticoid response
HGNC id 7610
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal domain of myocilin (without the olfactomedin domain) is essential for interaction with SNTA1
  • leucine zipper motif and olfactomedin homology domain
  • myosin-like domain
  • multiple post-translational forms : cellular (55kDa) and secreted 55/66kDa
  • ten putative phosphorylation sites
  • four glycosylation sites
  • conjugated GlycoP
    mono polymer dimer
    HOMOLOGY
    interspecies ortholog to MYOC, Pan troglodytes
    ortholog to myoc, Danio rerio
    ortholog to Myoc, Mus musculus
    ortholog to Myoc, Rattus norvegicus
    Homologene
    FAMILY
  • ezrin, radixin, maesin family
  • CATEGORY chaperone/stress , secretory , structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytoskeleton,microtubule
    text connecting cilium of the photoreceptor (
    basic FUNCTION
  • involved in the morphogenesis of ciliated neuroepithelium such as photoreceptor cells (
  • may have a role(s) in regulating intraocular pressure (
  • major organizing center of the ciliated epithelium
  • displays general molecular chaperone activity (
  • is one of the regulators of muscle hypertrophy pathways
  • is a regulator of muscle hypertrophy/atrophy pathways and the stabilization of dystrophin-associated protein complex (DAPC) and increased interaction with laminin may contribute to this regulation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • protein constituent of cytoskeleton
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • fibronectin and Hep II (
  • myosin motor protein and myosin regulatory light chain (
  • fibronectin and fibrillin-1 (
  • Optimedin (
  • glyceraldehyde-3-phosphate dehydrogenase, GAPDH (
  • MYOC interacts with SNTA1, a cytoplasmic component of the DAPC, that serves as a scaffolding adapter
  • cell & other
    REGULATION
    induced by trabecular meshwork-induced glucocorticoid response protein
    ASSOCIATED DISORDERS
    corresponding disease(s) GLC1A
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in skeletal muscles led to muscle hypertrophy
    Susceptibility
  • pigment dispersion syndrome (one patient)
  • mixed-mechanism glaucoma
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mouse heterozygous and homozygous for a targeted null mutation in Myoc gene are both viable and fertile, and Myoc is not required for normal intraocular pressure or normal ocular morphology (
  • lenses of transgenic mice expressing the Human mutated Tyr437His myocilin developed nuclear cataracts, completely lost transparency, and eventually ruptured (
  • Expression of human myocilin glaucomatous mutations in mouse eyes causes elevated intraocular pressure, which is a major phenotype of MYOC glaucoma (
  • increased skeletal muscle mass in myocilin-expressing transgenic mice compared with wild-type mice