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DKC1 - dyskerin pseudouridine synthase 1
- Synonym(s) : Cbf5, dyskerin, H/ACA ribonucleoprotein complex subunit 4, NAP57, NOLA4, XAP101
- Previous symbols and names : DKC, dyskeratosis congenita 1, dyskerin
- Type : gene with protein product
- Chromosomal location : Xq28
- OMIM: 300126
- HGNC: 2890
- UniProtKB: O60832
- Genatlas: DKC1
- Ensembl: ENSG00000130826
- IUPHAR-DB: -
- Reactome: O60832
- LOVD: DKC1
Diseases list
- Disease-causing germline mutation(s) in Dyskeratosis congenita
ORPHA:1775 
- Disease-causing germline mutation(s) in Hoyeraal-Hreidarsson syndrome
ORPHA:3322
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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