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This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
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Protein Aliases: adaptor related protein complex 4, epsilon 1 subunit; Adaptor-related protein complex 4 subunit epsilon-1; adaptor-related protein complex 4, epsilon 1 subunit; adaptor-related protein complex AP-4 epsilon; AP-4 adaptor complex subunit epsilon; AP-4 complex subunit epsilon-1; Epsilon subunit of AP-4; Epsilon-adaptin
Gene Aliases: AP4E1; CPSQ4; SPG51; STUT1
UniProt ID: (Human) Q9UPM8
Entrez Gene ID: (Human) 23431
Molecular Function: membrane traffic protein
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