Leber Congenital Amaurosis 5 (LCA5) ELISA Kits

LCA5 encodes a protein that is thought to be involved in centrosomal or ciliary functions. Zusätzlich bieten wir Ihnen LCA5 Antikörper (29) und LCA5 Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
LCA5 167691 Q86VQ0
LCA5 300866 Q5U2Y9
LCA5 75782 Q80ST9
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Top LCA5 ELISA Kits auf antikoerper-online.de

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Katalog Nr. Reaktivität Sensitivität Bereich Bilder Menge Anbieter Lieferzeit Preis Details
Human
  96 Tests Anmelden zum Anzeigen 13 bis 17 Tage
788,70 €
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Ratte
  96 Tests Anmelden zum Anzeigen 13 bis 17 Tage
788,70 €
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Maus
  96 Tests Anmelden zum Anzeigen 13 bis 17 Tage
788,70 €
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Weitere ELISA Kits für LCA5 Interaktionspartner

Human Leber Congenital Amaurosis 5 (LCA5) Interaktionspartner

  1. The authors report novel biallelic LCA5 mutations, Ala212Pro and Tyr441Cys, as causing cone dystrophy.

  2. Identification of novel LCA5 mutations in patients with Leber congenital amaurosis and retinitis pigmentosa.

  3. This work reveals a higher frequency of LCA5 mutations in a Spanish Leber congenital amaurosis cohort than in other populations.

  4. A novel LCA5 mutation is present in a Pakistani family with Leber congenital amaurosis and cataracts.

  5. Macular coloboma-type LCA (zeige CLTA ELISA Kits) shows genetic heterogeneity and it is not possible to establish a phenotype-genotype correlation with LCA5 and macular coloboma.

  6. The LCA5 gene on chromosome 6q14 encodes the ciliary protein lebercilin associated with Leber congenital amaurosis type 5.

  7. Data report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in this series (3/179; 1.7%).

  8. This is the second report of LCA5 mutations causing Leber congenital amaurosis.

  9. This result shows that mutation in LCA5 is likely to be a rare genetic cause in Koreans

  10. Leber congenital amaurosis 2 patients with LCA5 mutation had evidence of retained photoreceptors mainly in the central retina; retinal remodeling was present in pericentral regions

LCA5 Antigen-Profil

Beschreibung des Gens

This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described.

Genbezeichner und Symbole assoziert mit LCA5

  • Leber congenital amaurosis 5 (LCA5) Antikörper
  • Leber congenital amaurosis 5 (LOC787523) Antikörper
  • Leber congenital amaurosis 5 (Lca5) Antikörper
  • Leber congenital amaurosis 5 (human) (Lca5) Antikörper
  • 4930431B11Rik Antikörper
  • 5730406O13Rik Antikörper
  • AV274874 Antikörper
  • C6orf152 Antikörper
  • ORF64 Antikörper
  • RGD1308555 Antikörper

Bezeichner auf Proteinebene für LCA5

Leber congenital amaurosis 5 , lebercilin-like , Lebercilin , leber congenital amaurosis 5 protein , leber congenital amaurosis 5 protein homolog

GENE ID SPEZIES
100065273 Equus caballus
100152810 Sus scrofa
421852 Gallus gallus
716999 Macaca mulatta
787523 Bos taurus
100353175 Oryctolagus cuniculus
100395197 Callithrix jacchus
167691 Homo sapiens
481893 Canis lupus familiaris
300866 Rattus norvegicus
75782 Mus musculus
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