TRAPPC11
Function
Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage.
Involvement in disease
Muscular dystrophy, limb-girdle, autosomal recessive 18
LGMDR18
A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TRAPPC11 family.
Cellular localization
- Golgi apparatus
- Golgi apparatus
- cis-Golgi network
Alternative names
C4orf41, TRAPPC11, Trafficking protein particle complex subunit 11