Role of Ocrl1 in Primary Cilia Assembly

被引：10
作者：
Madhivanan, Kayalvizhi [1 ]
Ramadesikan, Swetha [1 ]
Aguilar, R. Claudio [1 ]
机构：
[1] Purdue Univ, Dept Biol Sci, W Lafayette, IN 47907 USA
来源：
INTERNATIONAL REVIEW OF CELL AND MOLECULAR BIOLOGY, VOL 317 | 2015年 / 317卷
关键词：
SYNDROME PROTEIN OCRL1; INOSITOL POLYPHOSPHATE 5-PHOSPHATASE; LOWE-SYNDROME; MEMBRANE RUFFLES; BINDING; INPP5B; ACTIN; TRAFFICKING; MUTATIONS; DOMAIN;
D O I：
10.1016/bs.ircmb.2015.02.003
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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 OcrI1 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 OcrI1 affect these different processes and contribute to patient symptoms. This chapter outlines the known physiological roles of OcrI1 which might be relevant to the mechanism underlying Lowe syndrome.
引用
收藏
页码：331 / 347
页数：17
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