EDC3 enhancer of mRNA decapping 3
Gene ID: 80153, updated on 6-Oct-2024Gene type: protein coding
Also known as: YJDC; LSM16; MRT50; YJEFN2; hYjeF_N2-15q23
- See all available tests in GTR for this gene
- Go to complete Gene record for EDC3
- Go to Variation Viewer for EDC3 variants
Summary
This gene encodes a protein that is important in mRNA degradation. The encoded protein is a component of a decapping complex that promotes efficient removal of the monomethylguanosine (m7G) cap from mRNAs, as part of the 5' to 3' mRNA decay pathway. Mutations in this gene have been identified in human patients with an autosomal recessive form of intellectual disability. [provided by RefSeq, May 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption. GeneReviews: Not available | |
| Intellectual disability, autosomal recessive 50 | See labs |
Genomic context
- Location:
- 15q24.1
- Sequence:
- Chromosome: 15; NC_000015.10 (74630558..74696024, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EDC3 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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