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Description
Approximately 4 years ago, the first major (biochemical, molecular biologic, and biologic) insight into primary open-angle glaucoma (POAG) was the presence of mutations in the myocilin (Trabecular meshwork-induced Glucocorticoid Response (Myo/TIGR) gene were related to certain forms of juvenile onset of this disease. Since then, a great deal of work has been done to determine the possible mechanisms by which MYOC/TIGR might cause not only juvenile but also adult-onset primary open-angle glaucoma. Mutation in the myocilin gene is associated with 4% (familial form) of glaucoma cases. Glaucoma is a heterogeneous eye disease and a major cause of blindness worldwide. It has been shown that primary open angle glaucoma (POAG)-associated mutations have been found in the trabecular meshwork inducible glucocorticoid response gene (TIGR), also known as the myocilin gene (MYOC), at the GLC1A locus on chromosome 1q21-q31 (1). Mutation in the TIGR protein coding region is mutated in POAG patients range from 3-4%. Myocilin is found as myocilin-Myocilin complex in the human aqueous humor and these interactions occur between amino acid 117-166 lying with in the leucine zipper motifs. Site directed mutations of the amino acid leucine in the leucine zipper results in disruption of these interactions and mutation (2). The human clone encoding for Myocilin protein of molecular weight of 55 kDa has been isolated and characterized (4). Myocilin, which resembles Myosin, is expressed preferentially in the ciliary rootlets and the basal body of the connecting cilium of the photoreceptor cells. The deduced amino acid sequence of the human myocilin showed significant homologies with non-muscle myosin of dictyostilium discoideum in the N-terminal region and also with olfactomedin of bullfrog in the C-terminal region. Myocilin has a leucine zipper like motif that interacts with other cytoskeletal proteins.Synonyms: GLC1A, MYOC, TIGR, Trabecular meshwork-induced glucocorticoid response protein