Neurofibromin 1 edit 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 Ontologija gena Molekulska funkcija • Aktivnost Ras GTPaznog aktivatora • proteinsko vezivanje • fosfatidiletanolaminsko vezivanje Ćelijska komponenta • nukleus • nukleolus • citoplazma Biološki proces • MAPK kaskada • osteoblastna diferencijacija • metanefrozni razvoj 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] 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] Povezano SPRED1 gen Reference ↑ 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.  edit ↑ 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 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.  Vanjske veze GeneReviews/NCBI/NIH/UW entry on Neurofibromatosis 1 Human Gene NF1 (uc002hgf.1) neurofibromin 1 from GeneCards Database of RNA editing

Index: pl ar de en es fr it arz nl ja pt ceb sv uk vi war zh ru af ast az bg zh-min-nan bn be ca cs cy da et el eo eu fa gl ko hi hr id he ka la lv lt hu mk ms min no nn ce uz kk ro simple sk sl sr sh fi ta tt th tg azb tr ur zh-yue hy my ace als am an hyw ban bjn map-bms ba be-tarask bcl bpy bar bs br cv nv eml hif fo fy ga gd gu hak ha hsb io ig ilo ia ie os is jv kn ht ku ckb ky mrj lb lij li lmo mai mg ml zh-classical mr xmf mzn cdo mn nap new ne frr oc mhr or as pa pnb ps pms nds crh qu sa sah sco sq scn si sd szl su sw tl shn te bug vec vo wa wuu yi yo diq bat-smg zu lad kbd ang smn ab roa-rup frp arc gn av ay bh bi bo bxr cbk-zam co za dag ary se pdc dv dsb myv ext fur gv gag inh ki glk gan guw xal haw rw kbp pam csb kw km kv koi kg gom ks gcr lo lbe ltg lez nia ln jbo lg mt mi tw mwl mdf mnw nqo fj nah na nds-nl nrm nov om pi pag pap pfl pcd krc kaa ksh rm rue sm sat sc trv stq nso sn cu so srn kab roa-tara tet tpi to chr tum tk tyv udm ug vep fiu-vro vls wo xh zea ty ak bm ch ny ee ff got iu ik kl mad cr pih ami pwn pnt dz rmy rn sg st tn ss ti din chy ts kcg ve

Prefix: a b c d e f g h i j k l m n o p q r s t u v w x y z 0 1 2 3 4 5 6 7 8 9

Portal di Ensiklopedia Dunia

Agama

Bahasa

Biografi

Budaya

Ekonomi

Elektronika

Film

Filsafat

Geografi

Indonesia

Ilmu

Lingkungan

Masyarakat

Matematika

Militer

Mitologi

Musik

Olahraga

Pendidikan

Politik

Sastra

Sejarah

Seni

Teknologi