Thermo Fisher Scientific DKC1 Polyclonal Antibody

Applications

Product Specifications

Product Specific Information

The recommended shelf life for this product is 1 year from the date of receipt.

Target Information

This gene is a member of the H/ACA snoRNPs gene family, which is involved in rRNA processing and modification. The H/ACA snoRNPs include the NOLA1, NOLA2, and NOLA3 proteins. The DKC1 protein and these NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled bodies in the nucleus. Depletion of any of these four proteins impairs 18S rRNA production and rRNA pseudouridylation. These proteins are also components of the telomerase complex.

The DKC1 gene is related to Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. Mutations in DKC1 cause X-linked dyskeratosis congenita, characterized by skin pigmentation, mucosal leukoplakia, nail dystrophy, and bone marrow failure, as well as Hoyeraal-Hreidarsson syndrome, a more severe form of the disease. 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.