H/ACA Ribonucleoprotein Complex Subunit DKC1 (DKC1) Antibody

DKC1 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.
Supplier Abbexa Ltd.
Product # abx032535-80UL
Pricing 80 µl USD $290.0
Clonality Polyclonal
Conjugation Unconjugated
Host Rabbit
Tested Applications ELISA, WB, IHC, IF/ICC
UniProt Primary AC O60832
Dry Ice No
Availability Shipped within 5-10 working days.
Note This product is for research use only.
Feedback