MYOC

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

Myocilin, trabecular meshwork inducible glucocorticoid response (TIGR), also known as MYOC, is a protein which in humans is encoded by the MYOC gene. Mutations in MYOC are a major cause of glaucoma.

Gene data

MYOC

Name: myocilin
Type: protein-coding
Position: 171,635,417–171,652,688 (−)
Aliases: GLC1A, GPOA, JOAG, JOAG1, TIGR
Ensembl: ENSG00000034971
RefSeq RNA: NM_000261.2
RefSeq protein: NP_000252.1

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].

via MyGene.info

Wikidata facts

Show 5 more facts

HomoloGene ID: 220
exact match: identifiers.org/ncbigene/4653
genomic end: 171652688
genomic start: 171604557
cytogenetic location: 1q24.3

Sources (8)

via Wikidata · CC0

~8 min read

Article

13 sections

Contents

Gene location
Protein characteristics
Protein structure
Protein localisation
Protein processing
Function
Mutations and associated diseases
Glaucoma 1, open angle (GLC1A)
Glaucoma 3, primary congenital (GLC3A)
Clinical significance
Interactions
References
Further reading

Myocilin, trabecular meshwork inducible glucocorticoid response (TIGR), also known as MYOC, is a protein which in humans is encoded by the MYOC gene. Mutations in MYOC are a major cause of glaucoma.

== Gene location ==