AP4M1
Template:Short description Template:Infobox gene AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene.[1][2][3]
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.[3]
Interactions
AP4M1 has been shown to interact with AP4B1.[4]
Clinical relevance
The AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[5] Mutations of the gene cause spastic paraplegia 50, one of the many subtypes of spastic paraplegia.
References
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External links
Further reading
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