NF2(redirected from ACN)
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Notation for neurofibromatosis type 2 gene.
NF2A 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.
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