Disease-gene associations mined from literature

Literature associating AKAP5 and Crouzon syndrome-acanthosis nigricans syndrome

AKAP5 [ENSP00000378207]

cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein; May anchor the PKA protein to cytoskeletal and/or organelle-associated proteins, targeting the signal carried by cAMP to specific intracellular effectors. Association with to the beta2-adrenergic receptor (beta2-AR) not only regulates beta2-AR signaling pathway, but also the activation by PKA by switching off the beta2-AR signaling cascade; A-kinase anchoring proteins

Synonyms:  AKAP5,  AKAP5p,  hAKAP5,  P24588,  AKAP79 ...

Linkouts:  STRING  Pharos  UniProt