Aliases for AP3B2 Gene
External Ids for AP3B2 Gene
Previous GeneCards Identifiers for AP3B2 Gene
Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]
GeneCards Summary for AP3B2 Gene
AP3B2 (Adaptor Related Protein Complex 3 Subunit Beta 2) is a Protein Coding gene. Diseases associated with AP3B2 include Developmental And Epileptic Encephalopathy 48 and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are Lysosome and ATM Pathway. Gene Ontology (GO) annotations related to this gene include binding and transporter activity. An important paralog of this gene is AP3B1.
UniProtKB/Swiss-Prot Summary for AP3B2 Gene
Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.