Ap-4 Complex Subunit Epsilon-1 (AP4E1) ELISA Kit for Sheep

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]

AP4E1: 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. Defects in AP4E1 are the cause of cerebral palsy spastic quadriplegic type 4 (CPSQ4). A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication. Belongs to the adaptor complexes large subunit family.

Protein type: Adaptor/scaffold

Chromosomal Location of Human Ortholog: 15q21.2

Cellular Component: Golgi apparatus; membrane coat; coated pit

Biological Process: vesicle-mediated transport; intracellular protein transport

Disease: Spastic Paraplegia 51, Autosomal Recessive