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. …

Mar 30, 2025 · OCRL (OCRL Inositol Polyphosphate-5-Phosphatase) is a Protein Coding gene. Diseases associated with OCRL include Lowe Oculocerebrorenal Syndrome and Dent …

The OCRL gene provides instructions for making an enzyme that is present in cells throughout the body. This enzyme is part of a larger group of enzymes that modify fat (lipid) molecules known …

Jul 25, 2023 · The causative OCRL gene encodes an enzyme involved in a number of intracellular processes. Researchers have elucidated a broad spectrum of phenotypic features linked to …

The causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1. OCRL variants have not only been found in classic …

Jul 3, 2017 · We discuss how studies of OCRL have led to important discoveries about the basic mechanisms of membrane trafficking and describe the key features and limitations of the …

Gene ID: 4952, updated on 9-Feb-2025. This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in …

We show that OCRL is expressed in podocytes in vivo and use cultured podocytes to understand better the role of OCRL in this cell type. Interestingly, we found in cultured podocytes that …

Jun 22, 2021 · The OCRL gene encodes a phosphatidylinositol 4,5-bisphosphate-5-phosphatase localized to the trans-Golgi network that is involved in actin polymerization (Suchy and …

Jan 7, 2024 · Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.