APBA2

Chr 15

amyloid beta precursor protein binding family A member 2

Also known as: D15S1518E, HsT16821, LIN-10, MGC:14091, MINT2, X11-BETA, X11L

NCBI Gene: 321 ENSG00000034053 UniProt: Q99767

APBA2 encodes a neuronal adapter protein that functions in synaptic vesicle exocytosis by binding to STXBP1 and also modulates amyloid precursor protein processing. Mutations cause autosomal dominant epileptic encephalopathy with onset typically in infancy or early childhood. The gene shows significant constraint against loss-of-function variants, suggesting haploinsufficiency as a likely disease mechanism.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.38

LOEUF

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Mechanism

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