" /> NF1 wt Allele - CISMeF





Preferred Label : NF1 wt Allele;

NCIt synonyms : VRNF; WSS; Neurofibromin 1 (Neurofibromatosis, Von Recklinghausen Disease, Watson Disease) Gene; NFNS; Neurofibromin 1 wt Allele; Neurofibromatosis Gene; Watson Disease Gene; Von Recklinghausen Disease Gene;

NCIt definition : Human NF1 wild type allele is located in the vicinity of 17p11.2 and is approximately 279 kb in length. This allele, which encodes neurofibromin protein, may be involved in the attenuation of Ras signal pathway. Mutations in this allele are associated with type I neurofibromatosis, juvenile myelomonocytic leukemia and Watson syndrome.;

NCIt note : The NF1 gene encodes four alternative transcripts for different protein isoforms with three transcripts that are differential expressed.;

GenBank Accession Number : NM_000267;

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16/05/2024


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