Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the X chromosome in humans. This gene encodes an inositol polyphosphate 5-phosphatase. The responsible gene locus is at Xq26.1. This phosphatase enzyme is in part responsible for regulating membrane trafficking actin polymerization, and is located in several subcellular parts of the trans-Golgi network. Deficiencies in OCRL-1 are associated with oculocerebrorenal syndrome and also have been linked to Dent's disease.
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Further reading
External links GeneReviews/NCBI/NIH/UW entry on Lowe Syndrome OCRL+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH) PDBe-KB provides an overview of all the structure information available in the PDB for Human Inositol polyphosphate 5-phosphatase OCRL-1