FERM Domain Containing 7 (FRMD7) ELISA Kits

Mutations in FRMD7 are associated with X-linked congenital nystagmus. Additionally we are shipping FRMD7 Antibodies (34) and FRMD7 Proteins (2) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Human FRMD7 FRMD7 90167 Q6ZUT3
Anti-Mouse FRMD7 FRMD7 385354 A2AD83
How to order from antibodies-online
  • +1 877 302 8632
  • +1 888 205 9894 (toll-free)
  • Order online
  • orders@antibodies-online.com

More ELISA Kits for FRMD7 Interaction Partners

Human FERM Domain Containing 7 (FRMD7) interaction partners

  1. Our findings provide further insights into FRMD7 mutations, which could be helpful for future genetic diagnosis and genetic counselling of Chinese patients with nystagmus.

  2. We also demonstrated abnormal developments of afferent system in patients with FRMD7 mutations using optical coherence tomography, which may help to understand the etiological factor in development of nystagmus

  3. this study adds a novel mutation (p.I240T) to the existing spectrum of FRMD7 mutations with Congenital, X-Linked Nystagmus.

  4. we report three novel mutations in FRMD7 in three independent families with XLICN, and provide molecular insights for future XLICN diagnosis and treatment.

  5. a novel mutation c.556A>G (p.M186V) in the gene FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family

  6. We investigated the role of mutations and copy number variations (CNV) of FRMD7 and GPR143 (show GPR143 ELISA Kits) in the molecular pathogenesis of IIN in 49 unrelated Belgian probands.

  7. Abnormal retinal development is associated with FRMD7 mutations.

  8. A nonsense mutation (R335X) in the FRMD7 gene was identified in 4 male patients and an asymptomatic female member.

  9. FERM domain containing protein 7 interacts with the Rho GDP dissociation inhibitor and specifically activates Rac1 signaling.

  10. Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.

Mouse (Murine) FERM Domain Containing 7 (FRMD7) interaction partners

  1. FRMD7 as a key regulator in establishing a neuronal circuit asymmetry

  2. A novel splice variant of FRMD7 (FRMD7-S) with a shortened exon 4 relative to the original form of FRMD7 (FRMD7-FL) was identified from the cDNA of the human NT2 cell line and mouse fetal brain.

  3. FRMD7 expression is spatially and temporally regulated in human and mouse brain during embryonic and fetal development.

FRMD7 Antigen Profile

Antigen Summary

Mutations in this gene are associated with X-linked congenital nystagmus.

Gene names and symbols associated with FRMD7

  • FERM domain containing 7 (FRMD7) antibody
  • FERM domain containing 7 (Frmd7) antibody
  • EG665849 antibody
  • Gm1533 antibody
  • NYS antibody
  • NYS1 antibody
  • XIPAN antibody

Protein level used designations for FRMD7

FERM domain-containing protein 7

90167 Homo sapiens
385354 Mus musculus
Did you look for something else?