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Arl2bp, A Novel Ciliopathy Protein, Is Required For Cilia Microtubule Formation, Abigail Ruth Moye
Arl2bp, A Novel Ciliopathy Protein, Is Required For Cilia Microtubule Formation, Abigail Ruth Moye
Graduate Theses, Dissertations, and Problem Reports
Cilia are specialized organelles essential for cellular function. Not surprisingly, mutations in cilia- related genes are linked to multi-syndromic diseases termed ciliopathies. These include blinding diseases such as retinitis pigmentosa (RP). One such novel gene is ARL2BP (ARL2-binding protein) and is linked to RP and situs inversus (organ reversal) in humans, a phenotype produced by defects in the nodal cilia of developing embryos. Defects in photoreceptor cilia, as well as situs inversus in human patients, suggest that ARL2BP plays an invaluable role in the structure and function of cilia. However little is known about the role for this protein in …