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myocilin (trabecular meshwork-induced glucocorticoid response protein, MYOC, GLC1A, TIGR)
Function:
- role in obstruction of fluid outflow in the trabecular meshwork
- interacts with OLFM3
Structure:
- homodimer
- contains 1 olfactomedin-like domain
- glycosylated
Compartment:
- ciliary rootlet & basal body of connecting cilium of photoreceptor cells
- rough endoplasmic reticulum
- secreted Different isoforms may arise by post-translational modification
Expression:
- expressed in large amounts in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart & other tissues
- expressed predominantly in the retina
- in normal eyes, found in the inner uveal meshwork region & the anterior portion of the meshwork
Pathology:
- role in obstruction of fluid outflow in the trabecular meshwork
- glaucomatous eyes,found in more regions of meshwork & is more intensively expressed than in normal eyes, regardless of the type or clinical severity of glaucoma
- defects in MYOC are a cause of adult-onset primary open angle glaucoma
- defects in MYOC are a cause of juvenile-onset primary open angle glaucoma
Related
MYOC gene mutation
General
glycoprotein
Properties
SIZE: MW = 57 kD
entity length = 504 aa
COMPARTMENT: endoplasmic reticulum
MOTIF: signal sequence {1-32}
N-glycosylation site {N57}
coiled coil {74-184}
Olfactomedin-like {244-503}
MOTIF: cysteine residue {C245}
MODIFICATION: cysteine residue {C433}
cysteine residue {C433}
MODIFICATION: cysteine residue {C245}
microbody-targeting signal {502-504}
Database Correlations
OMIM correlations
MORBIDMAP 601652
UniProt Q99972
Pfam PF02191
References
- UniProt :accession Q99972
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOC