EDC3
Domain
The DFDF domain is unstructured by itself. It assumes a helical fold upon interaction with DDX6.
Function
Binds single-stranded RNA. Involved in the process of mRNA degradation and in the positive regulation of mRNA decapping. May play a role in spermiogenesis and oogenesis.
Involvement in disease
Intellectual developmental disorder, autosomal recessive 50
MRT50
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT50 patients show mild intellectual disability and microcephaly.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the EDC3 family.
Tissue Specificity
Expressed in theca and granulosa cells in ovary, and in spermatids of the meiotic division part II and apical membrane of Sertoli cells in testis (at protein level). Also expressed in brain and mammary gland.
Cellular localization
- Cytoplasm
- P-body
- Processing bodies (PB).
Alternative names
LSM16, YJDC, YJEFN2, PP844, EDC3, Enhancer of mRNA-decapping protein 3, LSM16 homolog, YjeF N-terminal domain-containing protein 2, YjeF domain-containing protein 1, YjeF_N2, hYjeF_N2