CEP104 Rabbit Polyclonal Antibody

CAT#: TA367984

CEP104 rabbit polyclonal antibody

Specifications

Product Data

• Applications: IHC
• Recommended Dilution: IHC: 25-100
  Positive control: Human colorectal cancer
  Predicted cell location: Cytoplasm
• Reactivities: Human
• Host: Rabbit
• Isotype: IgG
• Clonality: Polyclonal
• Immunogen: Synthetic peptide of human CEP104
• Formulation: pH7.4 PBS, 0.05% NaN3, 40% Glycerol
• Concentration: lot specific
• Purification: Antigen affinity purification
• Conjugation: Unconjugated
• Storage: Store at -20°C.
• Stability: 1 year
• Database Link:
  UniProt ID O60308
• 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.