FRMD7 explained

FERM domain-containing protein 7 is a protein that in humans is encoded by the FRMD7 gene.^{[1] [2] [3]}

External links

• GeneReviews/NIH/NCBI/UW entry on FRMD7-Related Infantile Nystagmus

Further reading

• Cabot A . A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3 . Am. J. Hum. Genet. . 64 . 4 . 1141–6 . 2000 . 10090899 . 10.1086/302324 . 1377838 . vanc. Rozet JM . Gerber S . 3 . Perrault . Isabelle . Ducroq . Dominique . Smahi . Asmae . Souied . Eric . Munnich . Arnold . Kaplan . Josseline .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Ross MT . The DNA sequence of the human X chromosome . Nature . 434 . 7031 . 325–37 . 2005 . 15772651 . 10.1038/nature03440 . 2665286 . vanc. Grafham DV . Coffey AJ . 3 . Scherer . Steven . McLay . Kirsten . Muzny . Donna . Platzer . Matthias . Howell . Gareth R. . Burrows . Christine . 2005Natur.434..325R .
• Guo X . Linkage analysis of two families with X-linked recessive congenital motor nystagmus . J. Hum. Genet. . 51 . 1 . 76–80 . 2006 . 16240070 . 10.1007/s10038-005-0316-y . vanc. Li S . Jia X . 3 . Xiao . Xueshan . Wang . Panfeng . Zhang . Qingjiong . free.
• Schorderet DF . Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online . Hum. Mutat. . 28 . 5 . 525 . 2007 . 17397053 . 10.1002/humu.9492 . vanc. Tiab L . Gaillard MC . 3 . Lorenz . Birgit . Klainguti . Georges . Kerrison . John B. . Traboulsi . Elias I. . Munier . Francis L. . free .
• Zhang Q, Xiao X, Li S, Guo X . FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus . Mol. Vis. . 13 . 1375–8 . 2007 . 17768376 .
• Self JE . Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus . Arch. Ophthalmol. . 125 . 9 . 1255–63 . 2007 . 17846367 . 10.1001/archopht.125.9.1255 . vanc. Shawkat F . Malpas CT . 3 . Thomas . N. S. . Harris . C. M. . Hodgkins . P. R. . Chen . X. . Trump . D. . Lotery . A. J. . free .
• Zhang B . Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus . Mol. Vis. . 13 . 1674–9 . 2007 . 17893669 . vanc. Liu Z . Zhao G . 3 . Xie . X . Yin . X . Hu . Z . Xu . S . Li . Q . Song . F .
• Kaplan Y . Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene . The British Journal of Ophthalmology . 92 . 1 . 135–41 . 2008 . 17962394 . 10.1136/bjo.2007.128157 . vanc. Vargel I . Kansu T . 3 . Akin . B . Rohmann . E . Kamaci . S . Uz . E . Ozcelik . T . Wollnik . B . 11693/23235 . 22918227 . free .
• Shiels A, Bennett TM, Prince JB, Tychsen L . X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7 . Mol. Vis. . 13 . 2233–41 . 2008 . 18087240 .

Notes and References

1. Gutmann DH, Brooks ML, Emanuel BS, McDonald-McGinn DM, Zackai EH . Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus . Am J Med Genet . 39 . 2 . 167–9 . Aug 1991 . 2063919 . 10.1002/ajmg.1320390210 .
2. Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I . Mutations in a novel member of the FERM family, FRMD7 cause X-linked idiopathic congenital nystagmus (NYS1) . Nat Genet . 38 . 11 . 1242–4 . Oct 2006 . 17013395 . 2592600 . 10.1038/ng1893 .
3. Web site: Entrez Gene: FRMD7 FERM domain containing 7.