TPM2 : tropomyosin 2
Description
The TPM2 (tropomyosin 2) is a protein-coding gene located on chromosome 9.
The TPM2 gene provides instructions for making a protein called beta (β)-tropomyosin, which is part of the tropomyosin protein family. Tropomyosin proteins regulate the tensing of muscle fibers (muscle contraction) by controlling the binding of two muscle proteins, myosin and actin. In non-muscle cells, tropomyosin proteins play a role in controlling cell shape. β-tropomyosin is found primarily in skeletal muscles, which are the muscles used for movement. This protein helps regulate muscle contraction by interacting with other muscle proteins, particularly myosin and actin. These interactions are essential for stabilizing and maintaining structures called sarcomeres within muscle cells. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract.
TPM2 binds to actin filaments in muscle and non-muscle cells. It plays a key role, alongside the troponin complex, in regulating vertebrate striated muscle contraction in a calcium-dependent manner. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells, it contributes to stabilizing cytoskeleton actin filaments. The non-muscle isoform might be involved in agonist-mediated receptor internalization.
TPM2 is also known as AMCD1, CMYO23, CMYP23, DA1, DA2B, DA2B4, HEL-S-273, NEM4, TMSB.
Associated Diseases
- Distal arthrogryposis type 1
- Congenital fiber-type disproportion myopathy
- Typical nemaline myopathy
- Childhood-onset nemaline myopathy
- Congenital myopathy 23
- Cap myopathy
- Arthrogryposis, distal, type 1A
- Sheldon-Hall syndrome
- Congenital fiber-type disproportion
- Nemaline myopathy
