Name

DKC1 Gene

dyskeratosis congenita 1, dyskerin

This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Dyskerin-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dyskerin-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

dyskerin Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term dyskerin in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.