Product Datasheet  
CEP104 Antibody  
Catalog Number: 46473  
Technical:tech@swbio.com  
Information:info@swbio.com  
Description  
  • host_species：  
  • Rabbit
  • Amount：  
  • 100μgμg
  • Swiss-Prot No.：  
  • Swiss-Prot:O60308
    NCBI Gene ID:9731
    NCBI Protein:NP_055519
  • Form of Antibody：  
  • Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
  • Storage：  
  • Store at -20˚C
  • Immunogen：  
  • Synthetic peptide corresponding to internal residues of human CEP104
  • reactivity：  
  • Hu
  • appl_detail：  

  • Immunohistochemistry: 1: 25-100
  • other_names：  
  • GlyBP; ROC22; JBTS25; CFAP256; KIAA0562
  • Purification：  
  • Antigen affinity purification
  • Specificity：  
  • The antibody detects endogenous levels of total CEP104 protein.
  • Applications：  
  • IHC
  • Background：  
  • This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia.



 
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