AKAP1 Chromosome 17

A-kinase anchoring protein 1
1 variant 1 Health Risk

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What This Gene Does
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"A-kinase anchoring proteins|Protein phosphatase 1 regulatory subunits|Tudor domain containing"
Locus Type
gene with protein product
Location
17q22
Ensembl
ENSG00000121057
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS112469662 Health Risk Conflicting classifications of pathogenicity —
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