Aliases for OCRL Gene
External Ids for OCRL Gene
This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. [provided by RefSeq, Jul 2008]
GeneCards Summary for OCRL Gene
OCRL (Oculocerebrorenal Syndrome Of Lowe) is a Protein Coding gene. Diseases associated with OCRL include dent disease 2 and lowe syndrome. Among its related pathways are Signaling by GPCR and Rho GTPase cycle. GO annotations related to this gene include Rac GTPase binding and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. An important paralog of this gene is SYNJ2.
UniProtKB/Swiss-Prot for OCRL Gene
Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly.