RFC1 replication factor C subunit 1
Gene ID: 5981, updated on 3-Nov-2024Gene type: protein coding
Also known as: A1; RFC; PO-GA; RECC1; CANVAS; MHCBFB; RFC140
- See all available tests in GTR for this gene
- Go to complete Gene record for RFC1
- Go to Variation Viewer for RFC1 variants
Summary
This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MedGen: C3281223OMIM: 614575GeneReviews: Hereditary Ataxia Overview, RFC1 CANVAS / Spectrum Disorder | See labs |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available |
Genomic context
- Location:
- 4p14
- Sequence:
- Chromosome: 4; NC_000004.12 (39287456..39366362, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RFC1 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.