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Antibody detects endogenous levels of total MYOZ1.
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.
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Protein Aliases: calcineurin-2; Calsarcin-2; Filamin-, actinin- and telethonin-binding protein; MYOZ1; Myozenin-1; Protein FATZ; skeletal muscle-specific protein
Gene Aliases: 2310001N11Rik; AV090278; CS-2; FATZ; MYOZ; MYOZ1; RGD1561064
UniProt ID: (Human) Q9NP98, (Mouse) Q9JK37
Entrez Gene ID: (Human) 58529, (Mouse) 59011, (Rat) 498440
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