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DKC1

Gene

dyskerin pseudouridine synthase 1

HGNCHGNC:2890EnsemblENSG00000130826NCBI Gene1736
Locus: gene with protein productLocation: Xq28

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asDKC · XAP101 · dyskerin · NAP57 · NOLA4 · Cbf5
View full nomenclature history (8)
Previous symbolsDKC
Alias symbolsXAP101, dyskerin, NAP57, NOLA4, Cbf5
Previous namesdyskeratosis congenita 1, dyskerin
Alias namesH/ACA ribonucleoprotein complex subunit 4

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Dyskeratosis congenita
Neurodegenerative Diseases
Pulmonary Fibrosis

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

H/ACA ribonucleoprotein complexPseudouridine synthasesMicroRNA protein coding host genesSmall nucleolar RNA protein coding host genesTelomerase holoenzyme subunits

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-03-15.
Open TargetsGene–disease associations from the Open Targets Platform.