| Applications: | IF, IHC-P, WB |
| Species Reactivity: | Human, Mouse |
| Isotype: | Rabbit Ig |
| Purification: | Affinity Purified Rabbit Polyclonal Antibody |
| Description: | DKC1 is a member of the H/ACA snoRNPs (smallnucleolar ribonucleoproteins) gene family. snoRNPs are involved invarious aspects of rRNA processing and modification and have beenclassified into two families: C/D and H/ACA. The H/ACA snoRNPs alsoinclude the NOLA1, 2 and 3 proteins. The protein encoded by thisgene and the three NOLA proteins localize to the dense fibrillarcomponents of nucleoli and to coiled (Cajal) bodies in the nucleus.Both 18S rRNA production and rRNA pseudouridylation are impaired ifany one of the four proteins is depleted. These four H/ACA snoRNPproteins are also components of the telomerase complex. The proteinencoded by this gene is related to the Saccharomyces cerevisiaeCbf5p and Drosophila melanogaster Nop60B proteins. The gene lies ina tail-to-tail orientation with the palmitoylated erythrocytemembrane protein gene and is transcribed in a telomere tocentromere direction. Both nucleotide substitutions and singletrinucleotide repeat polymorphisms have been found in this gene.Mutations in this gene cause X-linked dyskeratosis congenita, adisease resulting in reticulate skin pigmentation, mucosalleukoplakia, nail dystrophy, and progressive bone marrow failure inmost cases. |
| Further Information: | This DKC1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 185-213 amino acids from the Central region of human DKC1. |
| Synonym: | H/ACA ribonucleoprotein complex subunit 4, 5499-, CBF5 homolog, Dyskerin, Nopp140-associated protein of 57 kDa, Nucleolar protein NAP57, Nucleolar protein family A member 4, snoRNP protein DKC1, DKC1, NOLA4 |
| Ascension Number: | O60832 |
| NCBI EntrezGene: | 1736 |
| Shipping Conditions: | Ship on cold packs |
| Storage: | Maintain refrigerated at 2-8 C for up to 2 weeks. For long term storage store at -20 C in small aliquots to prevent freeze-thaw cycles. |
| Usage: | Research use only |
