FERM Domain Containing 7 Proteine (FRMD7)

Mutations in FRMD7 are associated with X-linked congenital nystagmus. Zusätzlich bieten wir Ihnen FRMD7 Antikörper (34) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
FRMD7 90167 Q6ZUT3
FRMD7 385354 A2AD83
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Showing 2 out of 2 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 60 Days
$9,626.73
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Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 60 Days
$9,626.73
Details

FRMD7 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human

Mouse (Murine)

Weitere Proteine zu FERM Domain Containing 7 (FRMD7) Interaktionspartnern

Human FERM Domain Containing 7 (FRMD7) Interaktionspartner

  1. A novel mutation in the FRMD7 gene causing idiopathic congenital nystagmus was identified G to T transition (c.886G>T) in exon 9 that resulted in the conservative substitution of a glycine to a cysteine at codon 296.

  2. These results enriched the gene mutation spectrum of FRMD7.

  3. infantile nystagmus syndrome with FRMD7 mutations in our cases was caused primarily de novo and missense mutations

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

  5. 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

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

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

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

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

  10. Abnormal retinal development is associated with FRMD7 mutations.

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

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

  13. 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.

  14. a model whereby CASK recruits FRMD7 to the plasma membrane to promote neurite outgrowth during development of the oculomotor neural network and that defects in this interaction result in nystagmus.

  15. the identified FRMD7 mutant influences GTPase Rac1 signaling, which regulates neurite development.

  16. A novel missense mutation, c.A917G, was found in family members with congenital nystagmus.

  17. A novel splicing mutation, (c.163-1 G>T), was detected in the region preceding exon 3 of FRMD7 in a Chinese family patients with X-linked congenital nystagmus.

  18. 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.

  19. A previously unreported 4 base-pair deletion in the FRMD7 gene (c.1486-1489 del. TTTT) that causes X-linked idiopathic congenital nystagmus has been identified in a Chinese family.

  20. Clinicians can use the OKN drum to assess obligate female carriers in a family suspected of having X-linked nystagmus.

FRMD7 Protein Überblick

Protein Überblick

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

Genbezeichner und Symbole assoziert mit FRMD7

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

Bezeichner auf Proteinebene für FRMD7

FERM domain-containing protein 7

GENE ID SPEZIES
90167 Homo sapiens
385354 Mus musculus
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