The Molecular Biology of Neurofibromatosis Type 1
Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. The NF1 gene contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. The 327kDa (2,818 amino acid) neurofibromin protein is expressed in most tissues and has a number of alternative isoforms. Neurofibromin is a tumour suppressor protein and down-regulates cellular Ras. Increased active Ras-GTP levels also stimulate the important PI3K/AKT/mTOR signalling pathway that protects…
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Produktdetails
- ISBN: 978-1-61504-644-7
- EAN: 9781615046447
- Produktnummer: 16115465
- Verlag: Biota Publishing
- Sprache: Englisch
- Erscheinungsjahr: 2014
- Seitenangabe: 80 S.
- Masse: H23.5 cm x B19.1 cm x D0.4 cm 169 g
- Abbildungen: Paperback
- Gewicht: 169
Über den Autor
Institute of Medical Genetics, Cardiff University School of Medicine, UK
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