REC8 REC8 meiotic recombination protein
Gene ID: 9985, updated on 11-Apr-2024Gene type: protein coding
Also known as: Rec8p; REC8L1; HR21spB
- See all available tests in GTR for this gene
- Go to complete Gene record for REC8
- Go to Variation Viewer for REC8 variants
Summary
This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
Genomic context
- Location:
- 14q12
- Sequence:
- Chromosome: 14; NC_000014.9 (24172080..24180923)
- Total number of exons:
- 19
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for REC8 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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