| Name |
|---|
DKC1 Genedyskeratosis 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 SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Dyskerin-like protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
dyskerin Gene SetFrom 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. |