NF2


Also found in: Dictionary, Thesaurus, Acronyms, Encyclopedia.

NF2

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
References in periodicals archive ?
And when she's not busy studying at the University of the West of Scotland, she reaches out to other NF2 sufferers by working with UK-wide support group Can You Hear Us?
The team discovered the YAP-NF2 link by studying mice that had been genetically altered so that their livers were missing the NF2 protein.
NF2 is associated with tumours of the Schwann cells and meninges.
I've tried to put a brave face on things but as soon as I was told Yvonne had NF2 I knew she was going to die.
In NF2 patients, the faulty gene on chromosome 22 is inherited.
Children's Tumor Foundation The Children's Tumor Foundation is a 501(c)(3) not-for-profit organization dedicated to finding effective treatments for the millions of people worldwide living with neurofibromatosis (NF), a term for three distinct disorders: NF1, NF2, and schwannomatosis.
YAP1 has also been implicated in other cancers, he said, including lung and ovarian malignancies, and the mutation in NF2 has been found in other, less common forms of brain cancers as well as in mesothelioma, a type of lung cancer mostly associated with exposure to asbestos.
The NF2 (neurofibromatosis 2) TSG, located on 22q12, was one of the first TSGs shown to be inactivated in MPM.
The quintessential neurologic finding of NF2 is bilateral vestibular nerve schwannomas.
The Foundation is dedicated to improving the health and well-being of the millions of people worldwide living with neurofibromatosis (NF), a term for three distinct disorders: NF1, NF2 and schwannomatosis.
Evaluation of NF2 and NF1 tumor suppressor genes in distinctive gastrointestinal nerve sheath tumors traditionally diagnosed as benign schwannomas: a study of 20 cases.
Studies conducted in the past have suggested that a particular tumour-suppressing gene on human chromosome 22, known as NF2, may be a possible contributor to meningioma.