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Official Full Name
oculocerebrorenal syndrome of Lowe
Background
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.
Synonyms
OCRL; oculocerebrorenal syndrome of Lowe; inositol polyphosphate 5-phosphatase OCRL-1; OCRL1; Lowe oculocerebrorenal syndrome protein; phosphatidylinositol polyphosphate 5-phosphatase; LOCR; NPHL2; INPP5F; OCRL-1; wu:fi09g03; zgc:152864