Aliases for NF1 Gene
External Ids for NF1 Gene
Previous GeneCards Identifiers for NF1 Gene
This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for NF1 Gene
NF1 (Neurofibromin 1) is a Protein Coding gene. Diseases associated with NF1 include Neurofibromatosis-Noonan Syndrome and Neurofibromatosis, Type I. Among its related pathways are RET signaling and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include binding and phosphatidylcholine binding. An important paralog of this gene is SYNGAP1.
UniProtKB/Swiss-Prot Summary for NF1 Gene
Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.