| Protein Name | dyskerin pseudouridine synthase 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 1736 |
| Gene Symbol | DKC1 |
| UniProt | O60832 (DKC1_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
34
Total Number of Articles : 28 |
Description |
dyskerin pseudouridine synthase 1 |
| Gene Summary |
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] |
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