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Nystagmus 1, Congenital (NYS1)

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FRMD7; FERM Domain Containing 7

Nystagmus 1, Congenital (NYS1)
CCC P826
HGNC 8079
MGI 2686379
UniProt Q6ZUT3
The 714-amino acid FRMD7 protein shares close homology with FARP1 and FARP2 that is concentrated at the N terminus of the protein, where B41 and FERM-C domains are present. Expression analysis of FRMD7 showed that the mRNA is present in most tissues at low levels. Tarpey et al. (2006) confirmed this by RT-PCR, detecting expression in human adult kidney, liver, pancreas, and, at low levels, heart and brain. In human fetal tissue, they detected the transcript only in kidney. In situ hybridization experiments in human embryonic brain showed expression in the ventricular layer of the forebrain, midbrain, cerebellum primordium, spinal cord, and developing neural retina in embryos approximately 56 days postovulation. In earlier embryos the expression was restricted to the mid- and hindbrain, regions known to be involved in motor control of eye movement.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nystagmus 1, Congenital (NYS1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nystagmus 1, Congenital (NYS1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nystagmus 1, Congenital (NYS1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nystagmus 1, Congenital (NYS1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nystagmus 1, Congenital (NYS1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nystagmus 1, Congenital (NYS1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nystagmus 1, Congenital (NYS1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nystagmus 1, Congenital (NYS1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nystagmus 1, Congenital (NYS1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nystagmus 1, Congenital (NYS1) ELISA Kit Customized Service Offer
  1. "Identification of a novel FRMD7 splice variant and functional analysis of two FRMD7 transcripts during human NT2 cell differentiation."Mol. Vis. 17:2986-2996(2011) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development."Hum. Mol. Genet. 19:342-351(2010) [PubMed] [Europe PMC] [Abstract]
  6. "Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus." Nat. Genet. 38:1242-1244(2006) [PubMed] [Europe PMC] [Abstract]
  7. "Novel mutations in FRMD7 in X-linked congenital nystagmus."Hum. Mutat. 28:525-525(2007) [PubMed] [Europe PMC] [Abstract]
  8. "FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus."Mol. Vis. 13:1375-1378(2007) [PubMed] [Europe PMC] [Abstract]
  9. "Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus."Mol. Vis. 13:1674-1679(2007) [PubMed] [Europe PMC] [Abstract]
  10. "X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7."Mol. Vis. 13:2233-2241(2007) [PubMed] [Europe PMC] [Abstract]
  11. "Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene."Br. J. Ophthalmol. 92:135-141(2008) [PubMed] [Europe PMC] [Abstract]
  12. "A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family."Mol. Vis. 14:56-60(2008) [PubMed] [Europe PMC] [Abstract]
  13. "Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus."Mol. Vis. 14:733-738(2008) [PubMed] [Europe PMC] [Abstract]
  14. "The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus."Brain 134:892-902(2011) [PubMed] [Europe PMC] [Abstract]
  15. "Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus."Mol. Vis. 17:461-468(2011) [PubMed] [Europe PMC] [Abstract]
  16. "Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus."Eur. J. Hum. Genet. 20:1032-1036(2012) [PubMed] [Europe PMC] [Abstract]
  17. "A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family."Mol. Vis. 19:1834-1840(2013) [PubMed] [Europe PMC] [Abstract]