AKAP10 Chromosome 17
A-kinase anchoring protein 10
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What This Gene Does
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]
Gene Info
Gene Group
A-kinase anchoring proteins
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000108599
Associated Conditions (2)
Reclassified - variant of unknown significance
AKAP10-related disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS203462 | Health Risk | Conflicting classifications of pathogenicity | Reclassified - variant of unknown significance, AKAP10-related disorder, Reclassified - variant of unknown significance |