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

C8ORF37 encodes a ubiquitously expressed protein of unknown function. De plus, nous expédions et beaucoup plus de produits pour cette protéine.

afficher tous les anticorps Gène GeneID UniProt
C8ORF37 157657 Q96NL8
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Top anti-C8ORF37 Anticorps sur anticorps-enligne.fr

Showing 10 out of 16 products:

Catalogue No. Reactivité Hôte Conjugué Application Images Quantité Livraison Prix Détails
Humain Lapin Inconjugué 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 to 12 Days
$577.33
Détails
Humain Lapin Cy5.5 IF (p)   100 μL 14 to 21 Days
$416.90
Détails
Humain Lapin FITC IF (p)   100 μL 14 to 21 Days
$416.90
Détails
Humain Lapin Alexa Fluor 555 IF (p)   100 μL 14 to 21 Days
$416.90
Détails
Humain Lapin Alexa Fluor 647 IF (p)   100 μL 14 to 21 Days
$416.90
Détails
Humain Lapin Cy7 IF (p)   100 μL 14 to 21 Days
$416.90
Détails
Humain Lapin Alexa Fluor 488 IF (p)   100 μL 14 to 21 Days
$416.90
Détails
Humain Lapin Alexa Fluor 350 IF (p)   100 μL 14 to 21 Days
$416.90
Détails
Humain Lapin Cy5 IF (p)   100 μL 14 to 21 Days
$416.90
Détails
Humain Lapin Cy3 IF (p)   100 μL 14 to 21 Days
$416.90
Détails

Plus d’anticorps contre C8ORF37 partenaires d’interaction

Human Chromosome 8 Open Reading Frame 37 (C8ORF37) interaction partners

  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 profil antigène

Profil protéine

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).

Gene names and symbols associated with C8ORF37

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

Protein level used designations for C8ORF37

protein C8orf37

GENE ID SPECIES
157657 Homo sapiens
Fournisseurs de qualité sélectionnés pour anti-C8ORF37 (C8ORF37) Anticorps
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