Plays a role in vesicular transport from endoplasmic reticulum to Golgi.
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.
Belongs to the TRAPP small subunits family. Sedlin subfamily.
Expressed in testis, liver, bladder, lung, spleen and brain, several cell lines and primary chondrocytes cell line.
HSPC126, TRAPPC2L, Trafficking protein particle complex subunit 2-like protein
Proteins
16059Da
We found 1 product in 1 category