EDC3 Chromosome 15
Enhancer of mRNA decapping 3
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What This Gene Does
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 (2)
Intellectual disability
autosomal recessive 50
Key Variants
RS139450223
Conflicting classifications of pathogenicity
Health Risk
RS144174126
Conflicting classifications of pathogenicity
Health Risk
RS1057517676
Pathogenic
Intellectual disability, autosomal recessive 50, Intellectual disability
Health Risk
RS2505375430
Pathogenic
Intellectual disability, autosomal recessive 50, Intellectual disability
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139450223 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144174126 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057517676 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 50, Intellectual disability |
| RS2505375430 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 50, Intellectual disability |