Gene Symbol | NF1 |
Entrez Gene ID | 4763 |
Full Name | neurofibromin 1 |
Synonyms | NFNS,VRNF,WSS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Neurofibromatosis, type 1, 162200 (3); Leukemia, juvenile myelomonocytic, 607785 (3); Neurofibromatosis, familial spinal, 162210 (3); Neurofibromatosis-Noonan syndrome, 601321 (3); Watson syndrome, 193520 (3) |