Full Name: A-Kinase Anchoring Protein 6
Genomic Location: Chromosome 14:32,329,273-32,837,684
Protein Size: 2319 amino acids
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 highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum.
- rs17522122 is linked to AKAP6, it is located in the 3’-UTR region.
- Population frequencies are approximately 58% for the reference allele (G) and 42% for the alternate allele (T).
- Studies suggest the G allele is associated with increased cognition and education attainment.