Dyskerin (DKC)

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DKC1; NAP57; NOLA4; NAP57; Dyskeratosis Congenita 1; H/ACA Ribonucleoprotein Complex Subunit 4; Nopp140-associated protein of 57 kDa; Nucleolar protein family A member 4

Dyskerin (DKC)
Dyskeratosis congenita 1, dyskerin,is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins). 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. 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 (MPP1) gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
ProteinsRPC446Hu01Recombinant Dyskerin (DKC)SDS-PAGE; WB; ELISA; IP.
AntibodiesPAC446Hu01Polyclonal Antibody to Dyskerin (DKC)WB, ICC, IHC-P, IHC-F, ELISA
Assay Kitsn/aCLIA Kit for Dyskerin (DKC)CLIA Kit Customized Service Offer
n/aELISA Kit for Dyskerin (DKC)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
ProteinsRPC446Mu01Recombinant Dyskerin (DKC)SDS-PAGE; WB; ELISA; IP.
AntibodiesPAC446Mu01Polyclonal Antibody to Dyskerin (DKC)WB, ICC, IHC-P, IHC-F, ELISA
Assay Kitsn/aCLIA Kit for Dyskerin (DKC)CLIA Kit Customized Service Offer
n/aELISA Kit for Dyskerin (DKC)ELISA Kit Customized Service Offer
  1. "X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions."Nat. Genet. 19:32-38(1998) [PubMed] [Europe PMC] [Abstract]
  2. "X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene."Am. J. Hum. Genet. 65:50-58(1999) [PubMed] [Europe PMC] [Abstract]
  3. "Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene."Genomics 55:21-27(1999) [PubMed] [Europe PMC] [Abstract]
  4. "A new human dyskerin isoform with cytoplasmic localization."Biochim. Biophys. Acta 1810:1361-1368(2011) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]