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DKC1 Proteine

(Dyskeratosis Congenita 1, Dyskerin (DKC1))
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, Feb 2013].

8 Treffer

DKC1 Spezies: Human Wirt: Wheat germ Recombinant WB, ELISA, AA, AP
Produktnummer ABIN1351642
 
DKC1 Spezies: Human Wirt: Wheat germ Recombinant WB, ELISA, AA, AP
Produktnummer ABIN1351641
 
DKC1 Spezies: Human Wirt: Escherichia coli (E. coli) Recombinant > 90 % WB, SDS, Imm, PC
Produktnummer ABIN7418884
 
DKC1 Spezies: Maus Wirt: Escherichia coli (E. coli) Recombinant > 95 % WB, SDS, Imm, PC
Produktnummer ABIN7418887
 
DKC1 Spezies: Ratte Wirt: Escherichia coli (E. coli) Recombinant > 95 % WB, SDS, Imm, PC
Produktnummer ABIN7418890
 
DKC1 Spezies: Saccharomyces cerevisiae Wirt: Hefe Recombinant > 90 % ELISA
Produktnummer ABIN7584122
 
DKC1 Spezies: Ratte Wirt: Hefe Recombinant > 90 % ELISA
Produktnummer ABIN7584121
 
DKC1 Spezies: Schizosaccharomyces pombe Wirt: Hefe Recombinant > 90 % ELISA
Produktnummer ABIN1510156
 
  • Typ Protein
    • Protein
  • Anwendung
    • ELISA
    • Western Blotting (WB)
    • Immunogen (Imm)
    • Positive Control (PC)
    • SDS-PAGE (SDS)
    • Affinity Purification (AP)
    • Antibody Array (AA)
  • Reaktivität
    • Human
    • Rat
    • Mouse
    • Saccharomyces cerevisiae
    • Schizosaccharomyces pombe
  • Abbildungen verfügbar
  • Carrier free only
  • Wirt
    • Escherichia coli (E. coli)
    • Yeast
    • Wheat germ
  • Bindungsspezifität
    • AA 298-509
    • AA 1-474
    • AA 1-483
    • AA 1-514
    • AA 2-509
    • AA 298-465
    • AA 321-420
  • Konjugat
    • His tag
    • GST tag
  • Protein-Typ
    • Recombinant
  • Format
    • Lyophilized
  • Hersteller
    • antibodies-online
    • CUSABIO

Aliase für DKC1 Proteine

dyskerin pseudouridine synthase 1 (DKC1) Proteine
microRNA 664b (MIR664B) Proteine
dyskeratosis congenita 1, dyskerin (dkc1) Proteine
dyskeratosis congenita 1, dyskerin L homeolog (dkc1.L) Proteine
dyskeratosis congenita 1, dyskerin (Dkc1) Proteine
dyskerin pseudouridine synthase 1 (Dkc1) Proteine
homologue of NAP57 (NAP57) Proteine
AtCBF5 Proteine
AtNAP57 Proteine
BC068171 Proteine
CBF5 Proteine
cbf5 Proteine
DKC Proteine
dkc Proteine
DKC1 Proteine
DKCX Proteine
dyskerin Proteine
fv62a07 Proteine
homologue of NAP57 Proteine
NAP57 Proteine
nap57 Proteine
Nap57 Proteine
NOLA4 Proteine
nola4 Proteine
wu:fa28f10 Proteine
wu:fc87a02 Proteine
wu:fi24a05 Proteine
wu:fv62a07 Proteine
XAP101 Proteine
xap101 Proteine
zgc:110395 Proteine
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