基因名：
OCRL
产品别名：
DENT2； Dent-2； INPP5F； LOCR； NPHL2； OCRL-1； OCRL1； OCRL； OCRL inositol polyphosphate-5-phosphatase； OCRL inositol polyphosphate-5-phosphatase； inositol polyphosphate 5-phosphatase OCRL； Lowe oculocerebrorenal syndrome protein； inositol polyphosphate 5-phosphatase OCRL-1； oculocerebrorenal syndrome of Lowe； phosphatidylinositol 3,4,5-triphosphate 5-phosphatase； phosphatidylinositol polyphosphate 5-phosphatase； 磷酸肌醇磷酸酶蛋白INPP5；
背景信息：
The inositol polyphosphate 5-phosphatases selectively remove the phosphate from the 5-position of various phosphatidylinositols, which generate second messengers in response to extracellular signals. OCRL1 is a type II 5-phosphatase that is mutated in the oculocerebrorenal syndrome of Lowe (OCRL). OCRL is a rare X-linked disorder that is characterized in part by congenital cataracts, mental retardation, muscular hypotonia, and renal tubular dysfunction. OCRL1 has a high affinity for phosphatidylinositol 4,5-bisphosphate as well as inositol 1,4,5-trisphosphate, and inositol 1,3,4,5-tetrakisphosphate as substrates. OCRL1 is localized to the Golgi complex and is thought to be part of the trans-Golgi network (TGN), which suggests that OCRL1 plays a role in protein sorting and trafficking within the cell.
