DKC1
Chr XXLDXLRdyskerin pseudouridine synthase 1
Also known as: CBF5, CHINE1, DKC, DKCX, NAP57, NOLA4, XAP101
This gene encodes the catalytic subunit of H/ACA small nucleolar ribonucleoprotein complexes that catalyze pseudouridylation of ribosomal RNA and is required for ribosome biogenesis and telomerase maintenance. Mutations cause X-linked dyskeratosis congenita, a multisystem disorder affecting the skin, nails, oral mucosa, bone marrow, and other organs, as well as cataracts, hearing impairment, nephrotic syndrome, and enterocolitis. The gene is highly constrained against loss-of-function variants and follows X-linked inheritance.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DKC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools