TRAPPC4
Function
Core component of the TRAPP complexes which has a function of guanine nucleotide exchange factor activity for Rab1 GTPase (Probable). Plays a role in vesicular transport from endoplasmic reticulum to Golgi and autophagy (PubMed:31794024). May play a role in dendrite postsynaptic membrane trafficking (By similarity).
Involvement in disease
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
NEDESBA
An autosomal recessive disorder characterized by severely impaired global development apparent soon after birth, early-onset seizures, lack of psychomotor development, spastic quadriparesis, progressive cortical and cerebellar atrophy, and dysmorphic features, including microcephaly. Death in childhood may occur.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TRAPP small subunits family. TRAPPC4 subfamily.
Cellular localization
- Postsynaptic cell membrane
- Golgi apparatus membrane
- Endoplasmic reticulum
- Vesicle
- Associated with postsynaptic membranes and in intracellular cisterns and vesicles (Golgi).
Alternative names
SBDN, CGI-104, HSPC172, PTD009, TRAPPC4, Trafficking protein particle complex subunit 4, Hematopoietic stem/progenitor cell protein 172, Synbindin, TRS23 homolog