OCRL

(redirected from OCRL1)

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.
References in periodicals archive ?
Dent disease is a very rare X-linked disorder of proximal tubule dysfunction due to mutations in the CLCN5 chloride/protein exchanger gene (Dent disease 1, accounting for 60% of cases) or in the OCRL1 gene (Dent disease 2, accounting for 15% of cases) (Devuyst & Thakker, 2010; Edvardsson et al.
Most cases are caused by mutations in the CLCN5 gene classified as type 1 (OMIM # 300009) whereas mutations in the OCRL1 gene are responsible for type 2 (OMIM # 300555) of Dent's disease [1].
Mutation is found in the chloride channel 5 (CLC-5) gene on Xp11,22 chromosome in 60% of the patients and in the OCRL1 gene in 15% of the patients (8,9,10).
Lowe syndrome Mutations in the gene that codes for an includes early enzyme called OCRL1 lead to shortened cataracts, mental primary cilia.