POT1 protection of telomeres 1
Gene ID: 25913, updated on 7-Apr-2024Gene type: protein coding
Also known as: GLM9; CMM10; HPOT1; TPDS3; CRMCC3; PFBMFT8
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- Go to complete Gene record for POT1
- Go to Variation Viewer for POT1 variants
Summary
This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| Cerebroretinal microangiopathy with calcifications and cysts 3 | not available |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 | not available |
| Tumor predisposition syndrome 3 | See labs |
Genomic context
- Location:
- 7q31.33
- Sequence:
- Chromosome: 7; NC_000007.14 (124822386..124929825, complement)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POT1 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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