ANK3 disease associations
Ankyrin 3, node of Ranvier (ankyrin G); In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption; Ankyrin repeat domain containing
Synonyms: ANK3, ANK3p, hANK3, A8KA62, B1AQT0 ...