The gene ahnak encodes a large scaffolding protein localized to the nucleus during early embryogenesis and later to the cell periphery in basal epidermal cells and muscles. The protein functions in hea...[+]

The gene ahnak encodes a large scaffolding protein localized to the nucleus during early embryogenesis and later to the cell periphery in basal epidermal cells and muscles. The protein functions in heart development by regulating cardiomyocyte proliferation and differentiation, is involved in skeletal muscle membrane repair through its interaction with dysferlin, and plays a role in epidermal wound healing by facilitating actin cytoskeleton reorganization at the wound edge. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD