DISEASES

Disease-gene associations mined from literature

Literature associating AP4E1 and hereditary spastic paraplegia 32

AP4E1 [ENSP00000261842]

Adaptor-related protein complex 4, epsilon 1 subunit; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin- associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable); Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing

Synonyms:  AP4E1,  AP4E1p,  hAP4E1,  AP4E1-001,  AP4E1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM