DISEASES

Disease-gene associations mined from literature

Literature associating AKAP10 and Miller-Dieker lissencephaly syndrome

AKAP10 [ENSP00000225737]

A-kinase anchor protein 10, mitochondrial; Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G- alpha proteins, providing a link between the signaling machinery and the downstream kinase (By similarity).

Synonyms:  AKAP10,  AKAP10p,  hAKAP10,  A0A0S2Z4Z7,  E7EMD6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM