AKAP10

Chr 17

A-kinase anchoring protein 10

Also known as: AKAP-10, D-AKAP-2, D-AKAP2, PRKA10

NCBI Gene: 11216 ENSG00000108599 UniProt: O43572 OMIM: 604694

The AKAP10 protein binds regulatory subunits of protein kinase A and anchors them to mitochondria and plasma membranes, facilitating cellular signaling pathways including apoptosis regulation. Mutations cause autosomal dominant arrhythmogenic disorders with increased risk of cardiac arrhythmias and sudden cardiac death. This gene shows high constraint against loss-of-function variants (LOEUF 0.44), suggesting haploinsufficiency may be an important disease mechanism.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]

OMIM 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

0.44

LOEUF

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Mechanism