Article
Mutations Q93H and E97K in TPM2 Disrupt Ca-Dependent Regulation of Actin Filaments.
International journal of molecular sciences - 14 Apr 2021
Śliwinska Małgorzata, Robaszkiewicz Katarzyna, Wasąg Piotr, Moraczewska Joanna
Abstract excerpt
Tropomyosin is a two-chain coiled coil protein, which together with the troponin complex controls interactions of actin with myosin in a Ca2+-dependent manner. In fast skeletal muscle, the contractile actin filaments are regulated by tropomyosin isoforms Tpm1.1 and Tpm2.2, which form homo- and heterodimers. Mutations in the TPM2 gene encoding isoform Tpm2.2 are linked to distal arthrogryposis and congenital...
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