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AP4E1 encodes a member of the adaptor complexes large subunit protein family.
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The bivalency of the interactions contributes to a higher avidity of tepsin for AP-4 (show REPIN1 Antibodies).
Rare Variants in AP4E1 is associated with deficits in intracellular trafficking, and Persistent Stuttering.
An autosomal recessive form of spastic tetraplegic cerebral palsy with profound intellectual disability, microcephaly, epilepsy and white matter loss in a consanguineous family resulting from a homozygous deletion involving AP4E1.
AP-4 (show REPIN1 Antibodies) epsilon KO mice exhibit a range of neurological phenotypes, including hindlimb clasping, decreased motor coordination and weak grip strength. In addition, AP-4 (show REPIN1 Antibodies) epsilon KO mice display a thin corpus callosum and axonal swellings in various areas of the brain and spinal cord.
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.
AP-4 complex subunit epsilon-1
, adaptor-related protein complex AP-4 epsilon
, adaptor-related protein complex AP-4, epsilon 1
, AP-4 adapter complex subunit epsilon
, adapter-related protein complex 4 subunit epsilon-1
, epsilon subunit of AP-4