Fibroblasts This syndrome is caused by mutations in the OCRL gene which encodes an inositol polyphosphate-5-phosphatase. At least one mechanism by which these mutations cause this syndrome is by loss of its Rab-binding domain. This protein is associated with the primary cilia of the retinal pigment epithelial cells, fibroblasts and kidney tubular cells. This suggests that this syndrome is due to dysfunction of the cilia in these cells. About 120 mutations are associated with this condition and OCRL gene which is associated with<unk>
Oculocerebrorenal syndrome
Rickets
Branchio-oto-renal syndrome
Oculofaciocardiodental syndrome
Corneal-cerebellar syndrome
Oculocerebrocutaneous syndrome
Austrian syndrome
Chiasmal syndrome