Anti-DKC1/Dyskerin antibody [EPR10399]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

DKC1 also known as Dyskerin is a protein weighing approximately 57 kDa. It shows high expression in the nucleolus of cells aiding in key cellular processes. Dyskerin acts mechanically as a pseudouridine synthase which catalyzes the isomerization of uridine to pseudouridine in RNA molecules. This activity plays a significant role in rRNA modification and stabilization. Also Dyskerin functions as a scaffold within ribonucleoprotein complexes which is fundamental for ribosome biogenesis.

Biological function summary

Dyskerin is essential for maintaining the integrity of ribosomal RNA through its action within the H/ACA ribonucleoprotein complex. The protein binds H/ACA box small nucleolar RNAs (snoRNAs) which guides it to specific uridine residues in rRNA thereby modifying them to pseudouridine. These modifications have an important role in forming functional ribosomes. Additionally Dyskerin contributes to the stabilization of telomerase RNA component which impacts telomere maintenance and length regulation.

Pathways

The role of Dyskerin in ribosome biogenesis directly connects it to cellular growth and protein synthesis pathways. It associates with NOP10 GAR1 and NHP2 in the H/ACA ribonucleoprotein complex contributing to the processing of precursor rRNA. Dyskerin also associates with telomerase complex proteins like TERT functioning in the telomere maintenance pathway. In these pathways its activity ensures the accurate synthesis of proteins and the preservation of genomic stability.

Associated diseases and disorders

Dyskerin mutations relate to X-linked dyskeratosis congenita a condition characterized by impaired telomere maintenance leading to bone marrow failure. Additionally abnormal levels of Dyskerin have associations with certain cancers due to its role in rRNA processing and telomere regulation which can drive malignant transformation. Proteins like TERC which forms part of the telomerase complex are frequently involved in these Dyskerin-related disorders highlighting Dyskerin's critical involvement in cellular division and stability.