Biological Activity

Neurofibromin 2 (NF2) is a tumour suppressor. NF2 translocates to nucleus and binds to CRL4DCAF1 (Cullin Ring E3 ubiquitin ligase cullin 4 (CRL4) DDB1 (DNA damage binding protein 1) and CUL4 (cullin 4) associated factor 1 (DCAF1)) and suppresses tumour growth. The gene NF2 is inactivated in the familial neurofibromatosis type 2 cancer syndrome. Mutations of NF2 is associated with multiple tumours like Schwannomas, meningiomas, and malignant mesotheliomas. NF2 regulates Hippo signalling pathway and further activates yes associated protein 1 (YAP-1) and modulates cell growth in neurofibromatosis 2. Molecular modifications in NF2 gene leads to liver cancer through the involvement of Hippo pathway of pathogenesis. Polymorphism in NF2 is related to medulloblastoma.