DISEASES

Disease-gene associations mined from literature

Literature associating AP4B1 and hereditary spastic paraplegia 47

AP4B1 [ENSP00000358582]

AP-4 complex subunit beta-1; 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 (PubMed:10066790, PubMed:10436028). 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). ECO:0000269|PubMed:10436028, ECO:0000305|PubMed:10066790,

Synonyms:  AP4B1,  AP4B1p,  hAP4B1,  A0A024R0D2,  B1ALD0 ...

Linkouts:  STRING  Pharos  UniProt