MYOC
Sign in to saveAlso 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
- 171,635,417–171,652,742 (−)
- 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].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
myocilin
- Symbol
- MYOC
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:171,635,417-171,652,742
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 220
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/4653
- chromosome
- human chromosome 1
- genomic end
- 171652688
- genomic start
- 171604557
- cytogenetic location
- 1q24.3
Sources (8)
via Wikidata · CC0
~8 min read
Encyclopedic overview
13 sectionsContents
- 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 ==
Excerpted from Wikipedia’s “MYOC” article, available under the CC BY-SA 4.0 licence.