| Modification Notes |
Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD2 (ankyrin repeat domain 2), also known as ARPP or skeletal muscle ankyrin repeat protein, is a 360 amino acid protein involved in skeletal muscle hypertrophy that is expressed in slow fibers of skeletal and cardiac muscles and found in kidney, to a lesser extent. ANKRD2 is a member of the conserved muscle ankyrin repeat protein (MARP) family, whose expression can be triggered by injury, hypertrophy or physiological stress. Expressed as two alternatively spliced isoforms, ANKRD2 contains five ANK repeats and is encoded by a gene that maps to human chromosome 10q24.1. |