Thermo Fisher Scientific DKC1 Polyclonal Antibody

Applications

Western Blot (WB)

• Tested Dilution: 1:2,000–1:10,000

Immunoprecipitation (IP)

• Tested Dilution: 5–15 µg/mg lysate

Product Specifications

Product Specific Information

• Recommended shelf life: 1 year from date of receipt.

Target Information

This gene belongs to the H/ACA snoRNPs gene family, which plays roles in rRNA processing and modification. H/ACA snoRNPs include NOLA1, NOLA2, and NOLA3 proteins. The DKC1 protein localizes to nucleoli and coiled bodies within the nucleus. Depletion of any of the four H/ACA snoRNP proteins impairs 18S rRNA production and rRNA pseudouridylation. These proteins are also components of the telomerase complex.

The DKC1 gene is homologous to Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. It is transcribed in a telomere-to-centromere direction and lies tail-to-tail with the palmitoylated erythrocyte membrane protein gene. Mutations in DKC1 cause X-linked dyskeratosis congenita, characterized by reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure. Severe mutations lead to Hoyeraal-Hreidarsson syndrome. Two transcript variants encoding different isoforms have been identified.

For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.