IER3IP1
Function
Regulator of endoplasmic reticulum secretion that acts as a key determinant of brain size (PubMed:33122427). Required for secretion of extracellular matrix proteins (PubMed:33122427). Required for correct brain development by depositing sufficient extracellular matrix proteins for tissue integrity and the proliferation of neural progenitors (PubMed:33122427). Acts as a regulator of the unfolded protein response (UPR) (By similarity).
Involvement in disease
Microcephaly, epilepsy, and diabetes syndrome 1
MEDS1
An autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the YOS1 family.
Tissue Specificity
Highest levels in heart, skeletal muscle, and kidney.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
HSPC039, IER3IP1, Immediate early response 3-interacting protein 1