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Myocilin

gene symbol: MYOC. Myocilin, a myosin-like protein, is a 55-57 kDa secreted glycoprotein and member of the olfactomedin family (Kubota et al, 1997, 1998; Fingert et al, 1998). The gene hase been shown to be mutated in some forms of primary open-angle glaucoma (Stone et al, 1997; Booth et al, 2000; Fingert et al, 1999; Kaur et al, 2005) and the gene is, therefore, also being referred to as GLC1A (for glaucoma), JOAG [juvenile open-angle glaucoma], JOAG1. Zhou et al (2008) have reported that transgenic mice expressing the Tyr437His mutant of human myocilin protein develop glaucoma. These animals lose 20 % of the retinal ganglion cells and 55 % of large retinal ganglion cells ... ... ... ...
 
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Entry last modified: November 2014



 
 
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