Myocilin (MYOC)

GLC1A; GPOA; JOAG; JOAG1; TIGR; Trabecular Meshwork Inducible Glucocorticoid Response; Myocilin 55 kDa subunit

SPN	P149
HGNC	7610
MGI	1202864
PubMed	22328638
RGD	620430
UniProt	Q99972
Wiki	MYOC

MYOC encodes the protein myocilin. The precise function of myocilin is unknown, but it is normally secreted into the aqueous humor of the eye. MYOC mutations, which cause myocilin to accumulate in the cells of the trabecular meshwork are a common cause of glaucoma.

Myocilin 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.

Reference

"Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin."
FEBS Lett. 413:349-353(1997) [PubMed] [Europe PMC] [Abstract]

"A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping."
Genomics 41:360-369(1997) [PubMed] [Europe PMC] [Abstract]

"Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma."
Hum. Mol. Genet. 6:2091-2097(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of a gene that causes primary open angle glaucoma."
Science 275:668-670(1997) [PubMed] [Europe PMC] [Abstract]

"Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A)."
Biochem. Biophys. Res. Commun. 242:396-400(1998) [PubMed] [Europe PMC] [Abstract]

"Characterization and comparison of the human and mouse GLC1A glaucoma genes."
Genome Res. 8:377-384(1998) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells."
J. Biol. Chem. 273:6341-6350(1998) [PubMed] [Europe PMC] [Abstract]

"Dual localization of wild-type myocilin in the endoplasmic reticulum and extracellular compartment likely occurs due to its incomplete secretion."
Mol. Vis. 15:545-556(2009) [PubMed] [Europe PMC] [Abstract]

"Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg226 and Ile227."
J. Biol. Chem. 280:21043-21051(2005) [PubMed] [Europe PMC] [Abstract]

"Localization of myocilin to the golgi apparatus in Schlemm's canal cells."
Invest. Ophthalmol. Vis. Sci. 41:3842-3849(2000) [PubMed] [Europe PMC] [Abstract]

"Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues."
Invest. Ophthalmol. Vis. Sci. 42:1769-1780(2001) [PubMed] [Europe PMC] [Abstract]

"Optimedin: a novel olfactomedin-related protein that interacts with myocilin."
Hum. Mol. Genet. 11:1291-1301(2002) [PubMed] [Europe PMC] [Abstract]

"In vitro localization of TIGR/MYOC in trabecular meshwork extracellular matrix and binding to fibronectin."
Invest. Ophthalmol. Vis. Sci. 43:151-161(2002) [PubMed] [Europe PMC] [Abstract]

"Protein interactions with myocilin."
Invest. Ophthalmol. Vis. Sci. 43:176-182(2002) [PubMed] [Europe PMC] [Abstract]

"Distribution of myocilin and extracellular matrix components in the juxtacanalicular tissue of human eyes."
Invest. Ophthalmol. Vis. Sci. 43:1068-1076(2002) [PubMed] [Europe PMC] [Abstract]

"Expression and characterization of the olfactomedin domain of human myocilin."
Biochem. Biophys. Res. Commun. 302:554-561(2003) [PubMed] [Europe PMC] [Abstract]

"Characterization of rabbit myocilin: implications for human myocilin glycosylation and signal peptide usage."
BMC Genet. 4:5-5(2003) [PubMed] [Europe PMC] [Abstract]

"Extracellular trafficking of myocilin in human trabecular meshwork cells."
J. Biol. Chem. 280:28917-28926(2005) [PubMed] [Europe PMC] [Abstract]

"Characterization of the intracellular proteolytic cleavage of myocilin and identification of calpain II as a myocilin-processing protease."
J. Biol. Chem. 282:27810-27824(2007) [PubMed] [Europe PMC] [Abstract]

"Mitochondrial association of myocilin, product of a glaucoma gene, in human trabecular meshwork cells."
J. Cell. Physiol. 213:775-784(2007) [PubMed] [Europe PMC] [Abstract]

"Rho GTPase and cAMP/protein kinase A signaling mediates myocilin-induced alterations in cultured human trabecular meshwork cells."
J. Biol. Chem. 283:603-612(2008) [PubMed] [Europe PMC] [Abstract]

"Myocilin promotes substrate adhesion, spreading and formation of focal contacts in podocytes and mesangial cells."
Histochem. Cell Biol. 131:167-180(2009) [PubMed] [Europe PMC] [Abstract]

"Myocilin is a modulator of Wnt signaling."
Mol. Cell. Biol. 29:2139-2154(2009) [PubMed] [Europe PMC] [Abstract]

"Differential effects of myocilin and optineurin, two glaucoma genes, on neurite outgrowth."
Am. J. Pathol. 176:343-352(2010) [PubMed] [Europe PMC] [Abstract]

"Myocilin, a glaucoma-associated protein, promotes cell migration through activation of integrin-focal adhesion kinase-serine/threonine kinase signaling pathway."
J. Cell. Physiol. 226:3392-3402(2011) [PubMed] [Europe PMC] [Abstract]

"Myocilin stimulates osteogenic differentiation of mesenchymal stem cells through mitogen-activated protein kinase signaling."
J. Biol. Chem. 288:16882-16894(2013) [PubMed] [Europe PMC] [Abstract]

"Myocilin mediates myelination in the peripheral nervous system through ErbB2/3 signaling."
J. Biol. Chem. 288:26357-26371(2013) [PubMed] [Europe PMC] [Abstract]

"Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan."
Am. J. Hum. Genet. 61:1202-1204(1997) [PubMed] [Europe PMC] [Abstract]

"TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma."
Korean J. Ophthalmol. 11:75-78(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma."
Ophthalmic Genet. 18:109-118(1997) [PubMed] [Europe PMC] [Abstract]

"Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma."
Am. J. Hum. Genet. 63:1549-1552(1998) [PubMed] [Europe PMC] [Abstract]

"Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis."
Hum. Genet. 102:103-106(1998) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in the TIGR gene in early and late onset open angle glaucoma."
Hum. Mutat. 11:244-251(1998) [PubMed] [Europe PMC] [Abstract]

"Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma."
J. Med. Genet. 35:989-992(1998) [PubMed] [Europe PMC] [Abstract]

"Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma."
Nat. Genet. 19:319-321(1998) [PubMed] [Europe PMC] [Abstract]

"Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene."
N. Engl. J. Med. 338:1022-1027(1998) [PubMed] [Europe PMC] [Abstract]

"Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea."
Am. J. Hum. Genet. 64:1775-1778(1999) [PubMed] [Europe PMC] [Abstract]

"Analysis of myocilin mutations in 1703 glaucoma patients from five different populations."
Hum. Mol. Genet. 8:899-905(1999) [PubMed] [Europe PMC] [Abstract]

"Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma."
Jpn. J. Ophthalmol. 43:85-88(1999) [PubMed] [Europe PMC] [Abstract]

"Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma."
Am. J. Ophthalmol. 130:165-177(2000) [PubMed] [Europe PMC] [Abstract]

"Genetic screening in a large family with juvenile onset primary open angle glaucoma."
Br. J. Ophthalmol. 84:722-726(2000) [PubMed] [Europe PMC] [Abstract]

"Novel TIGR sequence alteration Val53Ala."
Hum. Mutat. 15:122-122(2000) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in the myocilin gene in Japanese glaucoma patients."
Hum. Mutat. 16:270-270(2000) [PubMed] [Europe PMC] [Abstract]

"Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma."
Invest. Ophthalmol. Vis. Sci. 41:1386-1391(2000) [PubMed] [Europe PMC] [Abstract]

"Novel mutation in the MYOC gene in primary open glaucoma patients."
J. Med. Genet. 37:301-303(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in the third exon of the MYOC gene in Spanish patients with primary open angle glaucoma."
Ophthalmic Genet. 21:109-115(2000) [PubMed] [Europe PMC] [Abstract]

"Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene."
Am. J. Hum. Genet. 70:448-460(2002) [PubMed] [Europe PMC] [Abstract]

"Founder TIGR/myocilin mutations for glaucoma in the Quebec population."
Hum. Mol. Genet. 11:2077-2090(2002) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients."
Hum. Mutat. 20:479-480(2002) [PubMed] [Europe PMC] [Abstract]

"TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma."
Invest. Ophthalmol. Vis. Sci. 43:3231-3235(2002) [PubMed] [Europe PMC] [Abstract]

"Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa."
J. Glaucoma 11:416-420(2002) [PubMed] [Europe PMC] [Abstract]

"Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma."
Arch. Ophthalmol. 121:1034-1038(2003) [PubMed] [Europe PMC] [Abstract]

"Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation."
Hum. Mutat. 22:179-179(2003) [PubMed] [Europe PMC] [Abstract]

"Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients."
Clin. Genet. 65:333-337(2004) [PubMed] [Europe PMC] [Abstract]

"Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography."
J. Glaucoma 13:466-471(2004) [PubMed] [Europe PMC] [Abstract]

"Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma."
Ophthalmic Genet. 25:11-23(2004) [PubMed] [Europe PMC] [Abstract]

"Myocilin gene implicated in primary congenital glaucoma."
Clin. Genet. 67:335-340(2005) [PubMed] [Europe PMC] [Abstract]

"Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma."
Arch. Ophthalmol. 124:102-106(2006) [PubMed] [Europe PMC] [Abstract]

"Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma."
Am. J. Ophthalmol. 144:75-80(2007) [PubMed] [Europe PMC] [Abstract]

"Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals."
Arch. Ophthalmol. 125:98-104(2007) [PubMed] [Europe PMC] [Abstract]