Thermo Fisher Scientific DKC1 Polyclonal Antibody

Applications and Tested Dilution

Product Specifications

Product Specific Information

Antibody detects endogenous levels of total DKC1.

Target Information

This gene is a member of the H/ACA snoRNPs gene family, involved in various aspects of rRNA processing and modification. The H/ACA snoRNPs include NOLA1, NOLA2, and NOLA3 proteins. The encoded protein and NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled bodies in the nucleus. Depletion of any of these proteins impairs 18S rRNA production and rRNA pseudouridylation. These four H/ACA snoRNP proteins are also components of the telomerase complex.

The protein encoded by this gene is related to Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene is transcribed in a telomere-to-centromere direction and lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene. Mutations in this gene cause X-linked dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome, which are associated with skin pigmentation abnormalities, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure. 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.