Gene Symbol | AP3B2 |
Entrez Gene ID | 8120 |
Full Name | adaptor related protein complex 3 beta 2 subunit |
Synonyms | EIEE48,NAPTB |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 48, 617276 (3) |