FEN1 flap structure-specific endonuclease 1
Gene ID: 2237, updated on 6-Oct-2024Gene type: protein coding
Also known as: MF1; RAD2; FEN-1
- See all available tests in GTR for this gene
- Go to complete Gene record for FEN1
- Go to Variation Viewer for FEN1 variants
Summary
The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. GeneReviews: Not available | |
| Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. GeneReviews: Not available | |
| Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu GeneReviews: Not available | |
| Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population. GeneReviews: Not available | |
| Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. GeneReviews: Not available | |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available |
Genomic context
- Location:
- 11q12.2
- Sequence:
- Chromosome: 11; NC_000011.10 (61792911..61797238)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FEN1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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