Neurofibromin
| Neurofibromin 1 | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 2838 amino acids | |
| Isoforms | truncated (1304 aa) | |
| Identifier | ||
| Gene name | NF1 | |
| External IDs | ||
| Occurrence | ||
| Homology family | HBG035419 | |
| Parent taxon | Jaws | |
| Orthologue | ||
| human | mouse | |
| Entrez | 4763 | 18015 |
| Ensemble | ENSG00000196712 | ENSMUSG00000020716 |
| UniProt | P21359 | Q3TYD2 |
| Refseq (mRNA) | NM_000267 | NM_010897 |
| Refseq (protein) | NP_000258 | NP_035027 |
| Gene locus | Chr 17: 26.45 - 26.73 Mb | Chr 11: 79.16 - 79.4 Mb |
| PubMed search | 4763 |
18015
|
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 signal pathway. The NF1 increases the GTPase activity of the active (GTP-bound) Ras form by a factor of 1000, whereby the inactive GDP-bound Ras form is increasingly formed. Mutations in the NF1 gene are not only associated with Recklinghausen neurofibromatosis, but also with juvenile myelomonocytic leukemia . There are various NF1 mRNA transcripts, but their function has not yet been fully understood.
See also
Technical work
- Upadhyaya M, Shaw DJ, Harper PS: Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene. . In: Hum. Mutat. . 4, No. 2, 1994, pp. 83-101. doi : 10.1002 / humu.1380040202 . PMID 7981724 .
- Shen MH, Harper PS, Upadhyaya M: Molecular genetics of neurofibromatosis type 1 (NF1). . In: J. Med. Genet. . 33, No. 1, 1996, pp. 2-17. PMID 8825042
- Skuse GR, Cappione AJ: RNA processing and clinical variability in neurofibromatosis type I (NF1). . In: Hum. Mol. Genet. . 6, No. 10, 1997, pp. 1707-12. PMID 9300663 .
- Feldkamp MM, Gutmann DH, Guha A: Neurofibromatosis type 1: piecing the puzzle together. . In: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques . 25, No. 3, 1998, pp. 181-91. PMID 9706718 .
- Hamilton SJ, Friedman JM: Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. . In: Clin. Genet. . 58, No. 5, 2001, pp. 341-4. PMID 11140831 .
- Baralle D, Baralle M: Splicing in action: assessing disease causing sequence changes. . In: J. Med. Genet. . 42, No. 10, 2006, pp. 737-48. doi : 10.1136 / jmg.2004.029538 . PMID 16199547 .
- Mensink KA, Ketterling RP, Flynn HC, et al. : Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature. . In: J. Med. Genet. . 43, No. 2, 2006, p. E8. doi : 10.1136 / jmg.2005.034256 . PMID 16467218 .
- Trovó-Marqui AB, Tajara EH: Neurofibromin: a general outlook. . In: Clin. Genet. . 70, No. 1, 2006, pp. 1-13. doi : 10.1111 / j.1399-0004.2006.00639.x . PMID 16813595 .
Individual evidence
- ↑ Entrez genes: NF1 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) . Retrieved January 18, 2011.
- ↑ Ballester R, Marchuk D, Boguski M, et al : The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins . In: Cell . 63, No. 4, November 1990, pp. 851-9. PMID 2121371 .
- ↑ Hattori S, Baba H: [Heterogeneity of GTPase-activating proteins for Ras in the regulation of Ras signal transduction pathway] . In: Yakugaku Zasshi . 116, No. 1, January 1996, pp. 21-38. PMID 8699317 .