APLP2

Chr 11

amyloid beta precursor like protein 2

Also known as: APLP-2, APPH, APPL2, CDEBP

NCBI Gene: 334 ENSG00000084234 UniProt: Q06481

APLP2 encodes amyloid precursor-like protein 2, which inhibits multiple coagulation factors and proteases including trypsin, chymotrypsin, and factor XIA, and works synergistically with amyloid precursor protein to mediate neuromuscular transmission and synaptic plasticity. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy with seizures, developmental delay, and neuromotor dysfunction. The gene shows significant constraint against loss-of-function variation (LOEUF 0.393), indicating intolerance to protein-truncating mutations.

ResearchSummary from RefSeq, UniProt

This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

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)

—

P/LP submissions

—

P/LP missense

0.39

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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