Neurofibromin 1
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Neurofibromin 1 takođe poznat kao protein vezan za neurofibromatozu NF-1 je protein koji je kod ljudi kodiran NF1 genom.[2] Mutacije NF1 gena su vezane za neurofibromatozu tipa I (takođe poznatu kao von Recklinghausen bolest) i Votsonov sindrom.[3]
| Neurofibromin 1 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
 PDB prikaz baziran na PDB 1nf1[1]. | |||||||||||
| Dostupne strukture | |||||||||||
| 1NF1, 2D4Q, 2E2X, 3P7Z, 3PEG, 3PG7 | |||||||||||
| Identifikatori | |||||||||||
| Simboli | NF1; NFNS; VRNF; WSS | ||||||||||
| Vanjski ID | OMIM: 613113 MGI: 97306 HomoloGene: 226 GeneCards: NF1 Gene | ||||||||||
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| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 4763 | 18015 | |||||||||
| Ensembl | ENSG00000196712 | ENSMUSG00000020716 | |||||||||
| UniProt | P21359 | Q04690 | |||||||||
| Ref. Sekv. (iRNK) | NM_000267 | NM_010897 | |||||||||
| Ref. Sekv. (protein) | NP_000258 | NP_035027 | |||||||||
| Lokacija (UCSC) | Chr 17: 29.42 - 29.71 Mb | Chr 11: 79.34 - 79.58 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
Vidi još uredi
Reference uredi
- ↑ Scheffzek, K.; Ahmadian, M. R.; Wiesmüller, L.; Kabsch, W.; Stege, P.; Schmitz, F.; Wittinghofer, A. (1998). „Structural analysis of the GAP-related domain from neurofibromin and its implications”. The EMBO Journal 17 (15): 4313–4327. DOI:10.1093/emboj/17.15.4313. PMC 1170765. PMID 9687500.
- ↑ Skuse GR, Kosciolek BA, Rowley PT (September 1991). „The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin”. Am. J. Hum. Genet. 49 (3): 600–7. PMC 1683134. PMID 1715669.
- ↑ Rasmussen SA, Friedman JM (January 2000). „NF1 gene and neurofibromatosis 1”. Am. J. Epidemiol. 151 (1): 33–40. DOI:10.1093/oxfordjournals.aje.a010118. PMID 10625171.
Literatura uredi
- Upadhyaya M, Shaw DJ, Harper PS (1994). „Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene”. Hum. Mutat. 4 (2): 83–101. DOI:10.1002/humu.1380040202. PMID 7981724.
- Shen MH, Harper PS, Upadhyaya M (1996). „Molecular genetics of neurofibromatosis type 1 (NF1)”. J. Med. Genet. 33 (1): 2–17. DOI:10.1136/jmg.33.1.2. PMC 1051805. PMID 8825042.
- Feldkamp MM, Gutmann DH, Guha A (1998). „Neurofibromatosis type 1: piecing the puzzle together”. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 25 (3): 181–91. PMID 9706718.
- Hamilton SJ, Friedman JM (2001). „Insights into the pathogenesis of neurofibromatosis 1 vasculopathy”. Clin. Genet. 58 (5): 341–4. DOI:10.1034/j.1399-0004.2000.580501.x. PMID 11140831.
- Baralle D, Baralle M (2006). „Splicing in action: assessing disease causing sequence changes”. J. Med. Genet. 42 (10): 737–48. DOI:10.1136/jmg.2004.029538. PMC 1735933. PMID 16199547.
- Mensink KA, Ketterling RP, Flynn HC i dr.. (2006). „Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature”. J. Med. Genet. 43 (2): e8. DOI:10.1136/jmg.2005.034256. PMC 2603036. PMID 16467218.
- Trovó-Marqui AB, Tajara EH (2006). „Neurofibromin: a general outlook”. Clin. Genet. 70 (1): 1–13. DOI:10.1111/j.1399-0004.2006.00639.x. PMID 16813595.