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OCRL

4CMN, 2KIE, 2QV2, 3QBT, 3QIS4952320634ENSG00000122126ENSMUSG00000001173Q01968Q6NVF0NM_000276NM_001587NM_001318784NM_177215NP_000267NP_001305713NP_001578NP_796189Inositol 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. 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 a phosphatase enzyme involved in actin polymerization, and is found in the trans-Golgi network. Mutation in this gene are associated with oculocerebrorenal syndrome and also with Dent's disease.

[ "Mutation", "Phosphoric monoester hydrolases", "Inositol", "Phenotype", "Lowe Oculocerebrorenal Syndrome" ]
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