Members

Ankyrins are peripheral membrane proteins thought to interconnect integral proteins with the spectrin-based membrane skeleton.

Erythrocytic ankyrin, also known as ankyrin-1 coded by ANK1 (MIM.182900) and brain ankyrin, also known as ankyrin-2 (ANK2) (MIM.106410) are distinct forms.

Ankyrin has been shown to associate with the voltage-dependent sodium channel in vitro and to colocalize with this molecule at nodes of Ranvier, axonal initial segments, and the neuromuscular junction.

Pathology

 ANK1 mutations in hereditary spherocytosis (MIM.182900) (8p11.2)
 ANK2 mutations in autosomal dominant type 4 long QT syndrome (MIM.600919)
 ANK2 mutations in sick sinus syndrome with bradycardia (MIM.600919)