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Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G.
2310001N11Rik; alpha-actinin binding protein; AV090278; calcineurin-2; calsarcin 2; calsarcin-2; CS-2; FATZ; filamin-, actinin- and telethonin-binding protein; MYOZ; myoz1; myozenin 1; myozenin precursor; myozenin-1; Protein FATZ; RGD1561064; skeletal muscle-specific protein
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