PRIMPOL primase and DNA directed polymerase
Gene ID: 201973, updated on 2-Nov-2024Gene type: protein coding
Also known as: MYP22; CCDC111; Primpol1
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- Go to complete Gene record for PRIMPOL
- Go to Variation Viewer for PRIMPOL variants
Summary
This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Myopia 22, autosomal dominant | See labs |
Genomic context
- Location:
- 4q35.1
- Sequence:
- Chromosome: 4; NC_000004.12 (184649738..184694952)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PRIMPOL 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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