Neurofibromin 1

  • OMIM: 162200
  • UniProt: P21359
  • MGI: 97306

Neurofibromin 1 is a human protein. Mutations in the neurofibromin 1 gene cause neurofibromatosis type 1 NF1 is believed to be a negative regulator of the ras signaling pathway. The NF1 thereby increasing the GTPase activity of the active ( GTP-bound ) Ras -shape around 1000 times, whereby the inactive GDP- bound Ras - shape is formed reinforced. Mutations in the NF1 gene are associated not only with neurofibromatosis Recklinghausen, but also with juvenile myelomonocytic leukemia. There are several NF1 mRNA transcripts, but their function is not yet fully understood.

Protein isoform Human Genome Organisation Mouse Genome Informatics Entrez Ensembl National Center for Biotechnology Information Digital Object Identifier
599192
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