NF2

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NF2

Notation for neurofibromatosis type 2 gene.

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).

Neurofibromatosis type 2 (NF2)

A hereditary condition associated with an increased risk of bilateral acoustic neuromas, other nerve cell tumors and cataracts.

Mentioned in: Acoustic Neuroma

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