|Western Blot (WB)||1:1000|
|Tested Species reactivity||Human, Mouse|
|Host / Isotype||Rabbit / IgG|
|Immunogen||KLH conjugated synthetic peptide between 185-213 amino acids from the central region of human DKC1|
|Purification||Antigen affinity chromatography|
|Contains||0.09% sodium azide|
|Storage conditions||-20° C, Avoid Freeze/Thaw Cycles|
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: CBF5; CBF5 homolog; cbf5p homolog; DKC; DKCX; dyskeratosis congenita 1, dyskerin; dyskeratosis congenita 1, dyskerin homolog; Dyskerin; H/ACA ribonucleoprotein complex subunit 4; NAP57; NOLA4; Nopp140-associated protein of 57 kDa; Nucleolar protein family A member 4; Nucleolar protein NAP57; snoRNP protein DKC1; XAP101
Gene Aliases: BC068171; CBF5; DKC; DKC1; DKCX; NAP57; NOLA4; XAP101
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