ERGIC1
Function
Possible role in transport between endoplasmic reticulum and Golgi.
Involvement in disease
Arthrogryposis multiplex congenita 2, neurogenic type
AMC2
A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMC2 is due to a neurogenic defect and is characterized by congenital immobility of the limbs with fixation of multiple joints, and muscle wasting. AMC2 transmission pattern is consistent with autosomal recessive inheritance in several families. Penetrance may be incomplete in females.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated.
Sequence Similarities
Belongs to the ERGIC family.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
- Endoplasmic reticulum-Golgi intermediate compartment membrane
- Multi-pass membrane protein
- Golgi apparatus membrane
- Multi-pass membrane protein
- Cycles between the endoplasmic reticulum and the Golgi.
Alternative names
ERGIC32, KIAA1181, HT034, ERGIC1, Endoplasmic reticulum-Golgi intermediate compartment protein 1, ER-Golgi intermediate compartment 32 kDa protein, ERGIC-32