DISEASES

Disease-gene associations mined from literature

ANK3 disease associations

ANK3 [ENSP00000280772]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM