OCRL1 is a type II inositol polyphosphate 5-phosphatase that participates into the PI(4,5) P2 homeostasis. OCRL1 has been originally localized to the trans-Golgi Network and to lysosomes and more recently to endosomes. It plays a vital role in regulating cellular trafficking and actin dynamics by controlling the cellular levels of phophatidylinositol 4,5 bisphospahte (PIP2), especially in the lysosomes. 

Studies have shown that almost all of the mutations identified in the OCRL gene are concentrated in only half of the 24 exons; exons 10-19, and 21-23. In fact, the region between exons 11 and 15 is considered a hotspot for mutations.