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).
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.
Belongs to the YOS1 family.
Highest levels in heart, skeletal muscle, and kidney.
HSPC039, IER3IP1, Immediate early response 3-interacting protein 1
Proteins
8969Da
We found 2 products in 1 category