Disease-gene associations mined from literature

Literature associating AP4M1 and strabismus

AP4M1 [ENSP00000352603]

Adaptor-related protein complex 4, mu 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 (By similarity). Within AP-4, the mu-type subunit AP4M1 is directly involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos. The adaptor protein complex 4 (AP-4) may also recognize other types of sorting signal (By similarity).

Synonyms:  AP4M1,  AP4M1p,  hAP4M1,  B4DKN7,  C9IZL5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM