MYOC

Chr 1

myocilin

Also known as: GLC1A, GPOA, JOAG, JOAG1, TIGR

NCBI Gene: 4653 ENSG00000034971 UniProt: Q99972

Myocilin is a secreted glycoprotein that regulates cell adhesion, cytoskeleton organization, and fluid outflow in the trabecular meshwork of the eye. Mutations cause autosomal dominant juvenile-onset primary open-angle glaucoma (Glaucoma 1A). The gene is not highly constrained against loss-of-function variants, consistent with its association with a specific tissue-related phenotype rather than systemic developmental abnormalities.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtGlaucoma 1, open angle, A

UniProtGlaucoma 3, primary congenital, A

Clinical highlights

Gene-disease validity (ClinGen)

open-angle glaucoma · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.25

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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