May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport. Interacts with AP5Z1, AP5B1, AP5S1 and ZFYVE26. Mainly cytoplasmic. Expressed in all structures of brain, with a high expression in cerebellum. Expressed in cortical projection neurons. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. Extended N-terminus. Truncated N-terminus. Extended N-terminus. Truncated N-terminus.