Aliases for AP4E1 Gene
External Ids for AP4E1 Gene
Previous GeneCards Identifiers for AP4E1 Gene
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]
GeneCards Summary for AP4E1 Gene
AP4E1 (Adaptor Related Protein Complex 4 Epsilon 1 Subunit) is a Protein Coding gene. Diseases associated with AP4E1 include Spastic Paraplegia 51, Autosomal Recessive and Severe Intellectual Disability And Progressive Spastic Paraplegia. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. GO annotations related to this gene include binding and structural molecule activity. An important paralog of this gene is AP1G2.
UniProtKB/Swiss-Prot for AP4E1 Gene
Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.