Overview

  • Product name

  • Description

    Rabbit polyclonal to CEP290
  • Host species

    Rabbit
  • Tested applications

    Suitable for: WB, IHC-Pmore details
  • Species reactivity

    Reacts with: Human
    Predicted to work with: Mouse
  • Immunogen

    Synthetic peptide within Human CEP290 aa 771-820. The exact sequence is proprietary. NP_079390.3.
    Sequence:

    PSSASIINSQ NEYLIHLLQE LENKEKKLKN LEDSLEDYNR KFAVIRHQQS


    Database link: O15078

  • Positive control

    • Human pancreas tissue; K462 cell extracts.

Properties

Applications

Our Abpromise guarantee covers the use of ab190237 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

Application Abreviews Notes
WB 1/500 - 1/1000. Predicted molecular weight: 290 kDa.
IHC-P Use a concentration of 10 µg/ml.

Target

  • Function

    Activates ATF4-mediated transcription. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes.
  • Tissue specificity

    Ubiquitous. Expressed strongly in placenta and weakly in brain.
  • Involvement in disease

    Defects in CEP290 are a cause of Joubert syndrome type 5 (JBTS5) [MIM:610188]. Joubert syndrome is an autosomal recessive disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (the 'molar tooth sign' on axial magnetic resonance imaging), psychomotor delay, hypotonia, ataxia, oculomotor apraxia and neonatal breathing abnormalities. JBTS5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis.
    Defects in CEP290 are a cause of Senior-Loken syndrome type 6 (SLSN6) [MIM:610189]. Senior-Loken syndrome is also known as juvenile nephronophthisis with Leber amaurosis. It is an autosomal recessive renal-retinal disorder, characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease.
    Defects in CEP290 are the cause of Leber congenital amaurosis type 10 (LCA10) [MIM:611755]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.
    Defects in CEP290 are the cause of Meckel syndrome type 4 (MKS4) [MIM:611134]. MKS4 is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
    Note=Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population.
    Defects in CEP290 are the cause of Bardet-Biedl syndrome type 14 (BBS14) [MIM:209900]. A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for disease manifestation in some cases (triallelic inheritance).
  • Cellular localization

    Cytoplasm > cytoskeleton > centrosome. Nucleus. Cell projection > cilium. Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells.
  • Information by UniProt
  • Database links

  • Alternative names

    • 3H11AG antibody
    • Bardet-Biedl syndrome 14 protein antibody
    • BBS14 antibody
    • Cancer/testis antigen 87 antibody
    • CE290_HUMAN antibody
    • Centrosomal protein 290 antibody
    • Centrosomal protein 290kDa antibody
    • Centrosomal protein of 290 kDa antibody
    • Cep290 antibody
    • CT87 antibody
    • CTCL tumor antigen se2 2 antibody
    • FLJ13615 antibody
    • FLJ21979 antibody
    • JBTS5 antibody
    • JBTS6 antibody
    • KIAA0373 antibody
    • LCA10 antibody
    • Meckel syndrome, type 4 antibody
    • MKS4 antibody
    • Monoclonal antibody 3H11 antigen antibody
    • Nephrocystin 6 antibody
    • Nephrocystin-6 antibody
    • NPHP6 antibody
    • POC3 antibody
    • POC3 centriolar protein homolog antibody
    • Prostate cancer antigen T21 antibody
    • rd16 antibody
    • SLSN6 1, 2, 5 antibody
    • SLSN6 antibody
    • Tumor antigen se2-2 antibody
    see all

Images

  • All lanes : Anti-CEP290 antibody (ab190237) at 1/500 dilution

    Lane 1 : K562 cell extract
    Lane 2 : K562 cell extract with synthesized peptide

    Predicted band size: 290 kDa

  • Immunohistochemical analysis of formalin-fixed, paraffin-embedded Human pancreas tissue labeling CEP290 with ab190237 at 10µg/ml.

References

ab190237 has not yet been referenced specifically in any publications.

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