anti-Chromosome 8 Open Reading Frame 37 (C8ORF37) Antikörper

C8ORF37 encodes a ubiquitously expressed protein of unknown function. Zusätzlich bieten wir Ihnen und viele weitere Produktgruppen zu diesem Protein an.

Alle Antikörper anzeigen Gen GeneID UniProt
C8ORF37 157657 Q96NL8
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Top anti-C8ORF37 Antikörper auf antikoerper-online.de

Showing 10 out of 16 products:

Katalog Nr. Reaktivität Wirt Konjugat Applikation Bilder Menge Lieferzeit Preis Details
Human Kaninchen Unkonjugiert IHC (p) Immunohistochemical staining of human lymph node with C8orf37 polyclonal antibody  shows strong cytoplasmic positivity in lymphoid cells outside reaction centra at 1:500-1:1000 dilution. 100 μL 11 bis 12 Tage
$577.33
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Human Kaninchen Cy5.5 IF (p)   100 μL 14 bis 21 Tage
$416.90
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Human Kaninchen FITC IF (p)   100 μL 14 bis 21 Tage
$416.90
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Human Kaninchen Alexa Fluor 555 IF (p)   100 μL 14 bis 21 Tage
$416.90
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Human Kaninchen Alexa Fluor 647 IF (p)   100 μL 14 bis 21 Tage
$416.90
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Human Kaninchen Cy7 IF (p)   100 μL 14 bis 21 Tage
$416.90
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Human Kaninchen Alexa Fluor 488 IF (p)   100 μL 14 bis 21 Tage
$416.90
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Human Kaninchen Alexa Fluor 350 IF (p)   100 μL 14 bis 21 Tage
$416.90
Details
Human Kaninchen Cy5 IF (p)   100 μL 14 bis 21 Tage
$416.90
Details
Human Kaninchen Cy3 IF (p)   100 μL 14 bis 21 Tage
$416.90
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Weitere Antikörper gegen C8ORF37 Interaktionspartner

Human Chromosome 8 Open Reading Frame 37 (C8ORF37) Interaktionspartner

  1. We conclude that C8orf37 should be added to Bardet-Biedl syndrome (BBS) screening panels as a probable rare cause of the disease and that individuals with C8orf37-related retinal dystrophy should be screened for BBS features.

  2. This report extends the genotypic spectrum of C8orf37-associated retinal dystrophies and demonstrates for the first time a genotype-phenotype correlation between an arCRD-polydactyly-association and truncating germline mutations affecting the N-terminal region of the protein.

  3. This is the first functional validation and association of C8ORF37 mutations with the BBS phenotype, which identifies BBS21. The zebrafish studies hereby show that C8ORF37 variants underlie clinically diagnosed BBS-related phenotypes as well as isolated retinal degeneration

  4. Our study identified two novel truncating mutations of the C8orf37 gene in siblings with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia.

  5. Novel C8orf37 mutations cause retinitis pigmentosa in two consanguineous families of Pakistani origin.

  6. Mutations in C8orf37 give rise to an early or adolescent-onset autosomal recessive cone rod dystrophy or retinitis pigmentosa phenotype with early macular atrophy.

  7. In a ciliary-expressed gene (C8orf37), mutations were identified that are associated with autosomal recessive cone-rod dystrophy and retinitis pigmentosa with early macular involvement.

C8ORF37 Antigen-Profil

Protein Überblick

This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP).

Genbezeichner und Symbole assoziert mit C8ORF37

  • chromosome 8 open reading frame 37 (C8orf37) Antikörper
  • CORD16 Antikörper
  • RP64 Antikörper
  • smalltalk Antikörper

Bezeichner auf Proteinebene für C8ORF37

protein C8orf37

GENE ID SPEZIES
157657 Homo sapiens
Ausgewählte Anbieter für anti-C8ORF37 (C8ORF37) Antikörper
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