Login
Login

FRMD7

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

FERM domain-containing protein 7 is a protein that in humans is encoded by the FRMD7 gene.{{cite journal |vauthors=Gutmann DH, Brooks ML, Emanuel BS, McDonald-McGinn DM, Zackai EH | title = Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus | journal = Am J Med Genet | volume = 39 | issue = 2 | pages = 167–9 |date=Aug 1991 | pmid = 2063919 | doi = 10.1002/ajmg.1320390210 }}{{cite journal |vauthors=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 | title = Mutations in a novel member of the FERM family, FRMD7 cause X-linked idiopathic congenital nystagmus (NYS1) | journal = Nat Genet | volume = 38 | issue = 11 | pages = 1242–4 |date=Oct 2006 | pmid = 17013395 | pmc = 2592600 | doi = 10.1038/ng1893 }}{{cite web | title = Entrez Gene: FRMD7 FERM domain containing 7| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=90167}}

References

{{reflist}}

External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=xl-nystag GeneReviews/NIH/NCBI/UW entry on FRMD7-Related Infantile Nystagmus]

Further reading

{{refbegin | 2}}

  • {{cite journal | author=Cabot A |title=A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3 |journal=Am. J. Hum. Genet. |volume=64 |issue= 4 |pages= 1141–6 |year= 2000 |pmid= 10090899 |doi=10.1086/302324 | pmc=1377838 |name-list-style=vanc| author2=Rozet JM | author3=Gerber S | display-authors=3 | last4=Perrault | first4=Isabelle | last5=Ducroq | first5=Dominique | last6=Smahi | first6=Asmae | last7=Souied | first7=Eric | last8=Munnich | first8=Arnold | last9=Kaplan | first9=Josseline }}
  • {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-style=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-style=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki | doi-access=free }}
  • {{cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-style=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
  • {{cite journal | author=Ross MT |title=The DNA sequence of the human X chromosome |journal=Nature |volume=434 |issue= 7031 |pages= 325–37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 | pmc=2665286 |name-list-style=vanc| author2=Grafham DV | author3=Coffey AJ | display-authors=3 | last4=Scherer | first4=Steven | last5=McLay | first5=Kirsten | last6=Muzny | first6=Donna | last7=Platzer | first7=Matthias | last8=Howell | first8=Gareth R. | last9=Burrows | first9=Christine |bibcode=2005Natur.434..325R }}
  • {{cite journal | author=Guo X |title=Linkage analysis of two families with X-linked recessive congenital motor nystagmus |journal=J. Hum. Genet. |volume=51 |issue= 1 |pages= 76–80 |year= 2006 |pmid= 16240070 |doi= 10.1007/s10038-005-0316-y |name-list-style=vanc| author2=Li S | author3=Jia X | display-authors=3 | last4=Xiao | first4=Xueshan | last5=Wang | first5=Panfeng | last6=Zhang | first6=Qingjiong | doi-access=free}}
  • {{cite journal | author=Schorderet DF |title=Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online |journal=Hum. Mutat. |volume=28 |issue= 5 |pages= 525 |year= 2007 |pmid= 17397053 |doi= 10.1002/humu.9492 |name-list-style=vanc| author2=Tiab L | author3=Gaillard MC | display-authors=3 | last4=Lorenz | first4=Birgit | last5=Klainguti | first5=Georges | last6=Kerrison | first6=John B. | last7=Traboulsi | first7=Elias I. | last8=Munier | first8=Francis L. | doi-access=free }}
  • {{cite journal |vauthors=Zhang Q, Xiao X, Li S, Guo X |title=FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus |journal=Mol. Vis. |volume=13 |pages= 1375–8 |year= 2007 |pmid= 17768376 }}
  • {{cite journal | author=Self JE |title=Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus |journal=Arch. Ophthalmol. |volume=125 |issue= 9 |pages= 1255–63 |year= 2007 |pmid= 17846367 |doi= 10.1001/archopht.125.9.1255 |name-list-style=vanc| author2=Shawkat F | author3=Malpas CT | display-authors=3 | last4=Thomas | first4=N. S. | last5=Harris | first5=C. M. | last6=Hodgkins | first6=P. R. | last7=Chen | first7=X. | last8=Trump | first8=D. | last9=Lotery | first9=A. J. | doi-access=free }}
  • {{cite journal | author=Zhang B |title=Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus |journal=Mol. Vis. |volume=13 |pages= 1674–9 |year= 2007 |pmid= 17893669 |name-list-style=vanc| author2=Liu Z | author3=Zhao G | display-authors=3 | last4=Xie | first4=X | last5=Yin | first5=X | last6=Hu | first6=Z | last7=Xu | first7=S | last8=Li | first8=Q | last9=Song | first9=F }}
  • {{cite journal | author=Kaplan Y |title=Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene |journal=The British Journal of Ophthalmology |volume=92 |issue= 1 |pages= 135–41 |year= 2008 |pmid= 17962394 |doi= 10.1136/bjo.2007.128157 |name-list-style=vanc| author2=Vargel I | author3=Kansu T | display-authors=3 | last4=Akin | first4=B | last5=Rohmann | first5=E | last6=Kamaci | first6=S | last7=Uz | first7=E | last8=Ozcelik | first8=T | last9=Wollnik | first9=B |hdl=11693/23235 |s2cid=22918227 | url=http://repository.bilkent.edu.tr/bitstream/11693/23235/1/Skewed%20X%20inactivation%20in%20an%20X%20linked%20nystagmus%20family%20resulted%20from%20a%20novel%2c%20p.R229G%2c%20missense%20mutation%20in%20the%20FRMD7%20gene.pdf | hdl-access=free }}
  • {{cite journal |vauthors=Shiels A, Bennett TM, Prince JB, Tychsen L |title=X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7 |journal=Mol. Vis. |volume=13 |pages= 2233–41 |year= 2008 |pmid= 18087240 }}

{{refend}}

{{gene-X-stub}}