AKAP8 Chromosome 19

A-kinase anchoring protein 8
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
Gene Info
Gene Group
A-kinase anchoring proteins
Locus Type
gene with protein product
Location
19p13.12
Ensembl
ENSG00000105127
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS113475650 Health Risk Conflicting classifications of pathogenicity —
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