TPM3 cDNA Clone – Tropomyosin 3 (Human)

This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

TPM3: a cytoskeletal protein that binds to actin filaments in muscle and nonmuscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. Defects in TPM3 are a cause of nemaline myopathy type 1 (NEM1). Three alternatively spliced isoforms have been described.

Protein type: Actin-binding; Contractile; Cytoskeletal; Motility/polarity/chemotaxis; Motor; Oncoprotein

Chromosomal Location of Human Ortholog: 1q21.2

Cellular Component: actin filament; cytoskeleton; cytosol; muscle thin filament tropomyosin; stress fiber

Molecular Function: actin filament binding; protein binding; structural constituent of muscle

Biological Process: actin filament organization; cell motility; muscle contraction; muscle filament sliding

Disease: Myopathy, Congenital, With Fiber-type Disproportion; Nemaline Myopathy 1