AKAP12 Chromosome 6

A-kinase anchoring protein 12
2 variants 2 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 is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
A-kinase anchoring proteins
Locus Type
gene with protein product
Location
6q25.1
Ensembl
ENSG00000131016
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS147345804 Health Risk Conflicting classifications of pathogenicity
RS62620007 Health Risk Conflicting classifications of pathogenicity
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