TRAPPC4

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).

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.

Belongs to the TRAPP small subunits family. TRAPPC4 subfamily.

• Postsynaptic cell membrane
• Golgi apparatus membrane
• Endoplasmic reticulum
• Vesicle
• Associated with postsynaptic membranes and in intracellular cisterns and vesicles (Golgi).

SBDN, CGI-104, HSPC172, PTD009, TRAPPC4, Trafficking protein particle complex subunit 4, Hematopoietic stem/progenitor cell protein 172, Synbindin, TRS23 homolog

• entrezGene:51399
• omim:610971
• swissprot:Q9Y296

Proteins

24340Da