FRMD7

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FERM domain containing 7
Identifiers
Symbol(s) FRMD7; FLJ43346; NYS; NYS1
External IDs OMIM: 300628 HomoloGene: 18855
Orthologs
Human Mouse
Entrez 90167 n/a
Ensembl ENSG00000165694 n/a
Uniprot Q6ZUT3 n/a
Refseq NM_194277 (mRNA)
NP_919253 (protein)		 n/a (mRNA)
n/a (protein)
Location Chr X: 131.04 - 131.09 Mb n/a
Pubmed search [1] n/a

FERM domain containing 7, also known as FRMD7, is a human gene.[1]


[edit] References

  1. ^ Entrez Gene: FRMD7 FERM domain containing 7.

[edit] Further reading

  • Gutmann DH, Brooks ML, Emanuel BS, et al. (1991). "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. doi:10.1002/ajmg.1320390210. PMID 2063919. 
  • Cabot A, Rozet JM, Gerber S, et al. (2000). "A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.". Am. J. Hum. Genet. 64 (4): 1141-6. PMID 10090899. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome.". Nature 434 (7031): 325-37. doi:10.1038/nature03440. PMID 15772651. 
  • Guo X, Li S, Jia X, et al. (2006). "Linkage analysis of two families with X-linked recessive congenital motor nystagmus.". J. Hum. Genet. 51 (1): 76-80. doi:10.1007/s10038-005-0316-y. PMID 16240070. 
  • Tarpey P, Thomas S, Sarvananthan N, et al. (2007). "Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.". Nat. Genet. 38 (11): 1242-4. doi:10.1038/ng1893. PMID 17013395. 
  • Schorderet DF, Tiab L, Gaillard MC, et al. (2007). "Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.". Hum. Mutat. 28 (5): 525. doi:10.1002/humu.9492. PMID 17397053. 
  • Zhang Q, Xiao X, Li S, Guo X (2007). "FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.". Mol. Vis. 13: 1375-8. PMID 17768376. 
  • Self JE, Shawkat F, Malpas CT, et al. (2007). "Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.". Arch. Ophthalmol. 125 (9): 1255-63. doi:10.1001/archopht.125.9.1255. PMID 17846367. 
  • Zhang B, Liu Z, Zhao G, et al. (2007). "Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.". Mol. Vis. 13: 1674-9. PMID 17893669. 
  • Kaplan Y, Vargel I, Kansu T, et al. (2008). "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. doi:10.1136/bjo.2007.128157. PMID 17962394. 
  • Shiels A, Bennett TM, Prince JB, Tychsen L (2008). "X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.". Mol. Vis. 13: 2233-41. PMID 18087240. 
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