The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex.

摘要: The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder affecting the lens, kidney, and CNS. predicted amino acid sequence OCRL gene, OCRL-1, was used to develop antibodies against OCRL-1 protein. Western blot analysis using affinity-purified serum terminus gene product (ocrl-1) demonstrates single protein 105 kD in fibroblasts normal individual that absent an patient who lacks transcript. A with same electrophoretic mobility found by western various human cultured cell lines, approximately size also all mouse tissues tested. Northern demonstrate transcript expressed nearly examined. By immunofluorescence, ocrl-1 antibody stains juxtanuclear region fibroblast cells, while no specific staining evident produces Colocalization Golgi complex demonstrated known monoclonal Golgi-specific coat protein, beta-COP (beta coatomer protein).