AKAP7
Description
The AKAP7 (A-kinase anchoring protein 7) is a protein-coding gene located on chromosome 6.
A-kinase anchor protein 7 isoform gamma is an enzyme that in humans is encoded by the AKAP7 gene. It belongs to the A-kinase anchoring protein (AKAP) family, a group of proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA), directing the enzyme to specific subcellular compartments. AKAPs share a common RII-binding domain but contain unique targeting motifs responsible for guiding PKA to distinct intracellular locations.
AKAP7 likely directs cAMP-dependent protein kinase (PKA) to the cell membrane or cytoskeletal components. When associated with the membrane, it decreases the activity of the epithelial sodium channel (ENaC). However, when free in the cytoplasm, it potentially inhibits the feedback control of ENaC channels by intracellular sodium.
AKAP7 is also known as AKAP15, AKAP18.
Associated Diseases
- urolithiasis
- melorheostosis
- dacryocystitis-osteopoikilosis syndrome
- cancer
- 12q14 microdeletion syndrome
- alopecia
- pyknoachondrogenesis
- gnathodiaphyseal dysplasia
