OCRL

(redirected from culocerebrorenal syndrome of Lowe)

OCRL

A gene on chromosome Xq25 that encodes phosphatidylinositol polyphosphate 5-phosphatase, an enzyme involved in actin polymerisation and possibly also in lysosomal membrane trafficking.

Molecular pathology
OCRL mutations cause oculocerebrorenal syndrome of Lowe and Dent disease.