Aliases for AP3B2 Gene
External Ids for AP3B2 Gene
Previous GeneCards Identifiers for AP3B2 Gene
Adaptor protein-3 (AP3) is a heterotetrameric vesicle-coat protein complex. Some AP3 subunits are ubiquitously expressed, whereas others are expressed exclusively in neurons. The neuron-specific AP3 complex, which includes AP3B2, is thought to serve neuron-specific functions such as neurotransmitter release (Grabner et al., 2006 [PubMed 16788073]).[supplied by OMIM, Mar 2008]
GeneCards Summary for AP3B2 Gene
AP3B2 (Adaptor-Related Protein Complex 3, Beta 2 Subunit) is a Protein Coding gene. Diseases associated with AP3B2 include congenital diaphragmatic hernia. Among its related pathways are Lysosome and ATM Pathway. GO annotations related to this gene include transporter activity. An important paralog of this gene is AP3B1.
UniProtKB/Swiss-Prot 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