Function
This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system.[7]
Interactions
Clinical relevance
The AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[9] Mutations of the gene cause spastic paraplegia 50, one of the many subtypes of spastic paraplegia.
References
External links
Further reading