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4jhp is a lipid binding protein. It is composed of two macromolecules described as retinal rod rhodopsin sensitive cGMP 3',5’cyclic phosphodiesterase subunit delta as well as X-linked retinitis pigmentosa GTPase regulator. The retinitis pegmentosa GTPase regulator, RPGR, may be mutated causing severe eye disease. It is also located in a region considered a ciliary zone. The European Molecular Biology Organization reports proposes that RPGR is being recruited to place lapidated cargo into the cilia. Oxford academic also has an article about ciliary trafficking defects. Examples given for ciliopathies it may cause are Joubert Syndrome, Bardet-Biedel Syndrome, and forms of retinitis pigmentosa.

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Related Disease

Ciliopathies are caused by defects to the cilia. Ciliopathies include kidney disease, nephronophtisis, Bardet–Biedl syndrome (BBS) and retinal degeneration syndromes. Retinitis pigmentosa is an eye disease that cause the photoreceptors cells to degenerate. The outer segments are formed by cilia. Once there is degeneration, night blindness may occur and eventually complete loss of vision. This disease may lead to other ciliopathy phenotypes such as respiratory infection, hearing defects, and abnormal sperm. Retinitis pigmentosa GTPase regulator is also connected to a more severe disease, X-linked retinitis pigmentosa.

Relevance

Structural highlights

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