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DKC1 (Human) Recombinant Protein (Q01)

  • Catalog # : H00001736-Q01
  • Visit Frequency :
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  • Specification
  • Product Description:
  • Human DKC1 partial ORF ( AAH09928, 321 a.a. - 420 a.a.) recombinant protein with GST-tag at N-terminal.
  • Sequence:
  • LRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS
  • Host:
  • Wheat Germ (in vitro)
  • Theoretical MW (kDa):
  • 36.63
  • Purification:
  • Glutathione Sepharose 4 Fast Flow
  • Quality Control Testing:
  • 12.5% SDS-PAGE Stained with Coomassie Blue.

    QC Testing of H00001736-Q01
  • Storage Buffer:
  • 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
  • Storage Instruction:
  • Store at -80°C. Aliquot to avoid repeated freezing and thawing.
  • Note:
  • Best use within three months from the date of receipt of this protein.
  • Applications
  • Enzyme-linked Immunoabsorbent Assay
  • Western Blot (Recombinant protein)
  • Antibody Production
  • Protein Array
  • Application Image
  • Enzyme-linked Immunoabsorbent Assay
  • Western Blot (Recombinant protein)
  • Antibody Production
  • Protein Array
  • Gene Information
  • Entrez GeneID:
  • 1736
  • Gene Name:
  • DKC1
  • Gene Alias:
  • CBF5,DKC,FLJ97620,NAP57,NOLA4,XAP101
  • Gene Description:
  • dyskeratosis congenita 1, dyskerin
  • Gene Summary:
  • 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
  • Other Designations:
  • H/ACA ribonucleoprotein complex subunit 4,OTTHUMP00000026046,cbf5p homolog,dyskerin,nopp140-associated protein of 57 kDa,nucleolar protein family A member 4,snoRNP protein DKC1
  • Related Disease
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