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GTX109000 ICC/IF Image
GTX109000 ICC/IF Image
GTX109000 ICC/IF Image

DKC1 antibody

Research Use Only
GTX109000
GeneTex
Product group Antibodies
Price on request
Packing Size
Large volume orders?
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Overview

  • Supplier
    GeneTex
  • Product Name
    DKC1 antibody
  • Delivery Days Customer
    9
  • Certification
    Research Use Only
  • Concentration
    1 mg/ml
  • Isotype
    IgG
  • Scientific Description
    This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]
  • Storage Instruction
    2°C to 8°C,-20°C
  • UNSPSC
    12352203

References

  • Resources for the Comprehensive Discovery of Functional RNA Elements. Sundararaman B et al., 2016 Mar 17, Mol Cell
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  • RNA helicase DDX21 coordinates transcription and ribosomal RNA processing. Calo E et al., 2015 Feb 12, Nature
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  • Systematic Discovery of RNA Binding Proteins that Regulate MicroRNA Levels. Nussbacher JK et al., 2018 Mar 15, Mol Cell
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