Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol NF1
Synonyms NFNS | VRNF | WSS
Gene Description NF1, neurofibromin, is a tumor suppressor (PMID: 30562755) which functions as a Ras GTPase-activating protein to regulate cell proliferation and prevent malignant transformation (PMID: 19380279, PMID: 35066574). NF1 germline mutations are common in neurofibromatosis type I (PMID: 30562755) and somatic mutations have been identified in a variety of human cancers (PMID: 28637487).
Additional content available in CKB BOOST