AP4E1 (Entrez ID: 23431)

Entrez Gene ID 23431
Official Gene Symbol AP4E1 (GeneCards)
Full name adaptor related protein complex 4 subunit epsilon 1
Location 15q21.2
Other ids Vega : OTTHUMG00000172458
MIM : 607244
HGNC : HGNC:573
Ensembl : ENSG00000081014
Other names CPSQ4, SPG51, STUT1
Summary 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. [provided by RefSeq, Nov 2011]

Variants

Found 3 variants in this database.