DKC1 dyskerin pseudouridine synthase 1
Gene ID: 1736, updated on 12-Oct-2024Gene type: protein coding
Also known as: DKC; CBF5; DKCX; NAP57; NOLA4; CHINE1; XAP101
- See all available tests in GTR for this gene
- Go to complete Gene record for DKC1
- Go to Variation Viewer for DKC1 variants
Summary
This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | not available |
| Dyskeratosis congenita, X-linked MedGen: C1148551OMIM: 305000GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders | See labs |
| Hoyeraal-Hreidarsson syndrome MedGen: C1846142GeneReviews: Not available | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2023-06-14) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2023-06-14) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq28
- Sequence:
- Chromosome: X; NC_000023.11 (154762864..154777689)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DKC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DKC1 @ LOVD
- DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Telomerase Database
- Variation ViewerRelated Variants
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