DKC1 is a member of the H/ACA snoRNPs (smallnnucleolar ribonucleoproteins) gene family. snoRNPs are involved innvarious aspects of rRNA processing and modification and have beennclassified into two families: C/D and H/ACA. The H/ACA snoRNPs alsoninclude the NOLA1, 2 and 3 proteins. The protein encoded by thisngene and the three NOLA proteins localize to the dense fibrillarncomponents of nucleoli and to coiled (Cajal) bodies in the nucleus.nBoth 18S rRNA production and rRNA pseudouridylation are impaired ifnany one of the four proteins is depleted. These four H/ACA snoRNPnproteins are also components of the telomerase complex. The proteinnencoded by this gene is related to the Saccharomyces cerevisiaenCbf5p and Drosophila melanogaster Nop60B proteins. The gene lies inna tail-to-tail orientation with the palmitoylated erythrocytenmembrane protein gene and is transcribed in a telomere toncentromere direction. Both nucleotide substitutions and singlentrinucleotide repeat polymorphisms have been found in this gene.nMutations in this gene cause X-linked dyskeratosis congenita, andisease resulting in reticulate skin pigmentation, mucosalnleukoplakia, nail dystrophy, and progressive bone marrow failure innmost cases.
应用类型
WB, IHC-P, IF
免疫原
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.
来源宿主
兔
反应性
人, 小鼠
保存建议
Store at 4˚C for three months and -20˚C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.