DKC1 Rabbit Polyclonal Antibody

CAT#: TA323896

Anti-DKC1 Rabbit Polyclonal Antibody

Product Images

Predicted band size: 58 kDa. Positive control: Hela and MCF7 cell lysate. Recommended dilution: 1/500-2000. (Gel: 10%SDS-PAGE Lane 1: Hela cell lysate Lane 2: MCF7 cell lysate Lysate: 40 ug per lane Primary antibody: 1/500 dilution Secondary antibody: Goat anti Rabbit IgG - H&L (HRP) at 1/10000 dilution Exposure time: 1 minute)

Specifications

Product Data

• Applications: WB
• Recommended Dilution: WB: 1:500-2000
• Reactivities: Human, Mouse, Rat
• Host: Rabbit
• Isotype: IgG
• Clonality: Polyclonal
• Immunogen: Fusion protein corresponding to C terminal 270 amino acids of human dyskeratosis congenita 1, dyskerin
• Formulation: PBS pH7.3, 0.05% NaN3, 50% glycerol
• Concentration: lot specific
• Purification: Antigen affinity purification
• Conjugation: Unconjugated
• Storage: Store at -20°C as received.
• Stability: Stable for 12 months from date of receipt.
• Predicted Protein Size: 58 kDa
• Gene Name: dyskerin pseudouridine synthase 1
• Database Link:
  NP_001135935
  Entrez Gene 170944 RatEntrez Gene 245474 MouseEntrez Gene 1736 Human
  UniProt ID O60832
• Background: 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.
• Synonyms: CBF5; DKC; DKCX; NAP57; NOLA4; XAP101

Reference Data

• Protein Families: Druggable Genome