RTEL1 regulator of telomere elongation helicase 1
Gene ID: 51750, updated on 7-Apr-2024Gene type: protein coding
Also known as: NHL; RTEL; DKCA4; DKCB5; PFBMFT3; C20orf41
- See all available tests in GTR for this gene
- Go to complete Gene record for RTEL1
- Go to Variation Viewer for RTEL1 variants
Summary
This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Chromosome 7p11.2 (EGFR) variation influences glioma risk. GeneReviews: Not available | |
| Dyskeratosis congenita, autosomal recessive 5 MedGen: C3554656OMIM: 615190GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders | See labs |
| Genome-wide association scan of dental caries in the permanent dentition. GeneReviews: Not available | |
| Genome-wide association study identifies five susceptibility loci for glioma. GeneReviews: Not available | |
| Genome-wide association study of glioma and meta-analysis. GeneReviews: Not available | |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. GeneReviews: Not available | |
| Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. GeneReviews: Not available | |
| Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. GeneReviews: Not available | |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | See labs |
| Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. GeneReviews: Not available | |
| Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk. GeneReviews: Not available |
Genomic context
- Location:
- 20q13.33
- Sequence:
- Chromosome: 20; NC_000020.11 (63657810..63696253)
- Total number of exons:
- 35
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RTEL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- Variation ViewerRelated Variants
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