Target intelligence / Profile preview

Adaptor protein complex 3 subunit beta-2 (AP3B2)

Target
AP3B2
Molecular classification
Adaptor protein complex subunit, Vesicle coat protein, Other
01

Overview

Adaptor protein complex 3 subunit beta-2 (AP3B2) is the neuron-specific beta subunit of the AP-3 adaptor protein complex, which is a heterotetramer involved in the trafficking and sorting of membrane proteins in neurons[1][2][4][5]. AP3B2 plays a crucial role in synaptic vesicle formation, maintaining axonal morphology, and trafficking lysosomal membrane proteins, contributing to neurotransmitter release and synaptic plasticity[2][4][5]. Genetic mutations in AP3B2 are linked to early-onset epileptic encephalopathy and other neurodevelopmental disorders[4][5]. Autoantibodies targeting AP3B2 have been observed in autoimmune cerebellar ataxia and certain paraneoplastic neurologic disorders, signifying the protein’s broader relevance in nervous system pathologies[4][5]. While AP3B2 is essential for neuronal intracellular membrane trafficking, it is not generally considered a direct therapeutic target drug-wise; its clinical importance is more as a disease gene and possible biomarker[4][5].

Other names
AP-3 complex subunit beta-2AP3B2NAPTBAdaptor protein complex AP-3 subunit beta-2Beta-3B-adaptinClathrin assembly protein complex 3 beta-2 large chainNeuron-specific vesicle coat protein beta-NAPDEE48EIEE48Neuronal adaptin-like protein beta-subunitadaptor related protein complex 3 beta 2 subunit
02

Biological functions

Intracellular trafficking of membrane proteinsSynaptic vesicle formationAxonal morphologyLysosomal membrane protein traffickingNeurotransmitter releaseSynaptic plasticityProtein sorting in late-Golgi/trans-Golgi network
03

Disease associations

Neurodevelopmental diseaseEpileptic encephalopathyAutoimmune cerebellar ataxiaParaneoplastic neurologic disordersLambert–Eaton myasthenic syndromeSensory dysfunctionCongenital diaphragmatic herniaOther
04

Safety considerations

Potential for neurologic impairment due to gene defectsAutoimmune responses (autoantibodies)
05

Biomarkers

Early-onset epileptic encephalopathy (DEE48/EIEE48)Detection of autoantibodies (e.g., in paraneoplastic syndromes)

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