BANF
NF2
A gene on chromosome 22q12.2 that encodes a putative regulator of the Hippo/SWH (Sav/Wts/Hpo) signalling pathway, which plays a key role in tumour suppression by restricting proliferation and promoting apoptosis. NF2 may act as a membrane-stabilising protein, and it may inhibit PI3 kinase by binding to AGAP2 and downregulating its stimulating activity. NF2 suppresses cell proliferation and tumourigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.Molecular pathology
NF2 defects cause:
• Neurofibromatosis 2;
• Schwannomatosis; and
• Mesothelioma (some cases).