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: Calsarcin-2; Filamin-, actinin- and telethonin-binding protein; MYOZ1; Myozenin-1; Protein FATZ
Gene Aliases: CS-2; FATZ; MYOZ; MYOZ1
UniProt ID: (Human) Q9NP98
Entrez Gene ID: (Human) 58529
Molecular Function: non-motor actin binding protein