MyBioSource.com's DKC1 Antibody (Center) is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: ELISA, Immunofluorescence, Immunohistochemistry, and Western Blot. The DKC1 Antibody (Center) was generated using CBF5, DKC, DKC1, Dyskerin, and NAP57 as the antigen and it reacts with Human, and Mouse.
Description
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