|Full Name||dyskeratosis congenita 1, dyskerin|
|Product Description||Rabbit Polyclonal antibody to DKC1 (dyskeratosis congenita 1, dyskerin)|
|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. [provided by RefSeq]|
|Synonyms||CBF5 antibody, DKC antibody, FLJ97620 antibody, NAP57 antibody, NOLA4 antibody, XAP101 antibody, DKC1 antibody, nucleolar protein family A member 4 antibody, nucleolar protein NAP57 antibody, nopp140-associated protein of 57 kDa antibody, CBF5 homolog antibody, snoRNP protein DKC1 antibody, H/ACA ribonucleoprotein complex subunit 4 antibody, cbf5p homolog antibody, "dyskeratosis congenita 1, dyskerin antibody"|
|Cellular Localization||Nucleus , nucleolus , Cajal body |
|Specificity||Knockdown/Knockout validation was supported by references (PMID:26991001)|
|Immunogen||Recombinant protein encompassing a sequence within the center region of human DKC1. The exact sequence is proprietary.|
|Predicted Cross Reactivity species Predicted cross-reactivity:|
Predicted cross-reactivity is based on sequence homology, with greater than 80% immunogen sequence identity considered positive.
Please note that we are only able to guarantee products to work in applications and species in which they have been tested.
|Mouse, Rat, Pig, Sheep, Rhesus Monkey, Bovine|
|Predict Reactivity Note||Mouse (89%), Rat (80%), Pig (89%), Sheep (90%), Rhesus Monkey (98%), Bovine (92%)|