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GENATLAS PHENOTYPE
last update : 23-03-2009
Symbol GLC1A
Location 1q23-q24
Name glaucoma, primary open angle1A
Corresponding gene MYOC
Other symbol(s) POAGJ, TIGR, JOAG1
Main clinical features
  • juvenile and occasionnally late age onset, excluding glaucoma with iris hypoplasia, unlikely to be commonly responsible for the prevalent adult onset form, associated with an increased risk of severe glaucomatous optic neuropathy (only heterozygously expressed)
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name myocilin (MYOC)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function mutant forming heteromultimers that can diminish secretion, is detergent insoluble, is misfolded and retained in the ER and may be retrotranslocated to the cytosol for ubiquitination and proteasomal degradation
    Remark(s) . mutations in human MYOC induce exposure of a cryptic peroxisomal targeting sequence whose interaction with the PEX5 is necessary for intraocular pressure elevation
  • alteration of the interaction by mutations in MYOC might be a key factor of the pathogenesis (interactions with FLOT1)
  • Genotype/Phenotype correlations combination of MYOC and CYP1B1 (R368H) mutations appears to correlate with an earlier manifestation of the disease