AKAP12 Chromosome 6
A-kinase anchoring protein 12
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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 | — |