AP4M1
Description
The AP4M1 (adaptor related protein complex 4 subunit mu 1) is a protein-coding gene located on chromosome 7.
AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene. 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. AP4M1 has been shown to interact with AP4B1. The AP4-complex-mediated trafficking plays a crucial role in brain development and functioning. Mutations of the gene cause spastic paraplegia 50, one of the many subtypes of spastic paraplegia.
AP-4 is a protein complex involved in vesicle trafficking, specifically the transport of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It also plays a role in protein sorting to the basolateral membrane in epithelial cells and the proper localization of somatodendritic proteins in neurons. AP-4 recognizes and binds to tyrosine-based sorting signals found in the cytoplasmic part of cargo proteins. It may also recognize other types of sorting signals. AP-4 is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1), and a small adaptin (sigma-type AP4S1).
AP4M1 is also known as CPSQ3, MU-4, MU-ARP2, SPG50.
Associated Diseases
- Severe intellectual disability and progressive spastic paraplegia
- Spastic paraplegia 50, autosomal recessive
