DKC1 Antibody

Background:

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.