Literature associating OCRL and Donnai-Barrow syndrome
Inositol polyphosphate 5-phosphatase OCRL-1; Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5- trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5- tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly; Belongs to the inositol 1,4,5-trisphosphate 5- phosphatase type II family.
Synonyms: OCRL, Q01968, INPP5F, OCRL1, Q01968p ...