title: Role of Ocrl1 in primary cilia assembly.
abstract: Lowe syndrome is a lethal X-linked genetic disorder characterized by congenital cataracts, mental retardation, and kidney dysfunction. It is caused by mutations in the OCRL1 (oculocerebrorenal syndrome of Lowe) gene that encodes a phosphatidylinositol 5-phosphatase (EC 3.1.3.36). The gene product Ocrl1 has been linked to a multitude of functions due to the central role played by phosphoinositides in signaling. Moreover, this protein also has the ability to bind Rho GTPases, the master regulators of the actin cytoskeleton, and to interact with elements of the vesicle trafficking machinery. It is currently under investigation how deficiencies in Ocrl1 affect these different processes and contribute to patient symptoms. This chapter outlines the known physiological roles of Ocrl1 which might be relevant to the mechanism underlying Lowe syndrome.
authors.affiliation: Department of Biological Sciences, Purdue University, West Lafayette, IN, USA.
authors.forename: Kayalvizhi
authors.initials: K
authors.lastname: Madhivanan
authors.affiliation: Department of Biological Sciences, Purdue University, West Lafayette, IN, USA.
authors.forename: Swetha
authors.initials: S
authors.lastname: Ramadesikan
authors.affiliation: Department of Biological Sciences, Purdue University, West Lafayette, IN, USA.
authors.forename: R Claudio
authors.initials: RC
authors.lastname: Aguilar
mesh_terms: D000818:Animals; D002923:Cilia / Q000502:physiology*; D006801:Humans; D009800:Oculocerebrorenal Syndrome / Q000378:metabolism* / Q000473:pathology*; D010744:Phosphoric Monoester Hydrolases / Q000378:metabolism*
chemical_list: D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human; C489581:Ocrl protein, mouse
keywords: Ciliopathy; Lowe syndrome; OCRL1; Oculocerebrorenal syndrome of Lowe; Primary cilia