TRAPPC2L
Function
Plays a role in vesicular transport from endoplasmic reticulum to Golgi.
Involvement in disease
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
PEERB
An autosomal recessive disease characterized by progressive encephalopathy exacerbated by febrile illness and associated with severe neurodevelopmental delay, episodes of rhabdomyolysis, developmental regression, epilepsy and tetraplegia.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TRAPP small subunits family. Sedlin subfamily.
Tissue Specificity
Expressed in testis, liver, bladder, lung, spleen and brain, several cell lines and primary chondrocytes cell line.
Cellular localization
- Cytoplasm
- Perinuclear region
- Endoplasmic reticulum
- Golgi apparatus
Alternative names
HSPC126, TRAPPC2L, Trafficking protein particle complex subunit 2-like protein