Role of ACTN3 (R577X) in metabolic and contractile properties of human muscle. KU Leuven
Three studies will investigate the role of the stop codon polymorphism in the ACTN3 gene. ACTN3 codes for the alpha-actinin-3 protein, with its unique location in the Z-line of fast contractile muscle fibers. ACTN2 is present in Z-lines of all fiber types. Alpha-actinins are important structural components of the Z-line, but also interact with many other proteins, indicating a regulatory function in contractility and metabolic characteristics of ...