Search for a gene
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

Gene 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
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.