Anti-DKC1 monoclonal antibody Made to order

Antibody Isotype

IgG

Species Reactivity

Human

Immunogen

A synthetic peptide of human DKC1 is used for rabbit immunization.

Conjugate

Alternative Names

DKC1; dyskeratosis congenita 1, dyskerin; DKC; H/ACA ribonucleoprotein complex subunit 4; dyskerin; NAP57; NOLA4; XAP101; CBF5 homolog; cbf5p homolog; snoRNP protein DKC1; nucleolar protein NAP57; nucleolar protein family A member 4; nopp140-associated pr

Entrez Gene ID

UniProt ID

Antigen Description

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.

Pathway

Cell Cycle, organism-specific biosystem; Chromosome Maintenance, organism-specific biosystem; Extension of Telomeres, organism-specific biosystem; H/ACA ribonucleoprotein complex, organism-specific biosystem; Regulation of Telomerase, organism-specific biosystem; Ribosome biogenesis in eukaryotes, organism-specific biosystem; Ribosome biogenesis in eukaryotes, conserved biosystem;