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Echinobase

Summary Expression Gene Literature (0) GO Terms (39) Nucleotides (8) Proteins (3) Interactants (50) Wiki
ECB-GENEPAGE-23049683
???displayGene.symbol??? :
 dkc1
Symbol Status : Curated


???displayGene.name???: 
dyskerin pseudouridine synthase 1
Name Status : Curated


???displayGene.synonyms???
dyskerin , H/ACA ribonucleoprotein complex subunit DKC1 , LOC110980963 , LOC584530 , Sp-Dkc1 , Sp-Dkc1_1 [+] ( Nomenclature history )

AI Protein Function :
The dkc1 gene in Strongylocentrotus purpuratus encodes a dyskerin protein that functions as a pseudouridine synthase involved in ribosomal RNA pseudouridylation and telomerase activity, localizing to t...[+]


???displayGene.geneInteractants???
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Diseases: 


Disease Ontology:
X-linked dyskeratosis congenita

MIM:
DYSKERATOSIS CONGENITA, X-LINKED; DKCX

External Links:
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