STN1 STN1 subunit of CST complex
Gene ID: 79991, updated on 19-Sep-2024Gene type: protein coding
Also known as: AAF44; OBFC1; AAF-44; RPA-32; bA541N10.2
- See all available tests in GTR for this gene
- Go to complete Gene record for STN1
- Go to Variation Viewer for STN1 variants
Summary
OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. GeneReviews: Not available | |
| Cerebroretinal microangiopathy with calcifications and cysts 2 MedGen: C4479220OMIM: 617341GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders | See labs |
| Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology. GeneReviews: Not available | |
| Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. GeneReviews: Not available | |
| Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. GeneReviews: Not available | |
| Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. GeneReviews: Not available | |
| Identification of seven loci affecting mean telomere length and their association with disease. GeneReviews: Not available |
Genomic context
- Location:
- 10q24.33
- Sequence:
- Chromosome: 10; NC_000010.11 (103877569..103918184, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for STN1 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
- Variation ViewerRelated Variants
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