AP3B2

Chr 15

adaptor related protein complex 3 subunit beta 2

Also known as: DEE48, EIEE48, NAPTB

NCBI Gene: 8120 ENSG00000103723 UniProt: Q13367

The AP3B2 protein is the beta subunit of the neuron-specific adaptor protein complex 3 (AP-3), which mediates protein sorting in the late-Golgi/trans-Golgi network and targeting of cargos to neurites and nerve terminals. Biallelic mutations cause developmental and epileptic encephalopathy 48, an early-onset seizure disorder with autosomal recessive inheritance. The gene shows high constraint against loss-of-function variants (LOEUF 0.342), indicating that such variants are likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 48

Clinical highlights

Gene-disease validity (ClinGen)

genetic developmental and epileptic encephalopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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