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OCRL
Protein-coding gene in the species Homo sapiens / From Wikipedia, the free encyclopedia
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.[5]
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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 may cause with oculocerebrorenal syndrome[6] and also have been linked to Dent's disease.[7][8]