TPM3
Domain
The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-residues periodicity.
Function
Binds to actin filaments in muscle and non-muscle 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.
Involvement in disease
Congenital myopathy 4A, autosomal dominant
CMYO4A
A muscular disorder characterized by onset of muscle weakness in infancy or childhood. Most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Many patients have respiratory insufficiency with reduced vital capacity. Skeletal muscle biopsy shows nemaline rod inclusions, subsarcolemmal 'cap' structures, and fiber-type disproportion.
None
The disease is caused by variants affecting the gene represented in this entry.
Congenital myopathy 4B, autosomal recessive
CMYO4B
A muscular disorder characterized by muscle weakness appearing in infancy or early childhood. Most affected individuals show congenital contractures, delayed motor development, hypotonia, respiratory insufficiency, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty walking or inability to walk. Skeletal muscle biopsy shows variable histologic findings, including nemaline rods, type 1 fiber predomination, and centralized nuclei.
None
The disease is caused by variants affecting the gene represented in this entry.
A chromosomal aberration involving TPM3 is found in papillary thyroid carcinomas (PTCs). A rearrangement with NTRK1 generates the TRK fusion transcript by fusing the amino end of isoform 2 of TPM3 to the 3'-end of NTRK1.
Sequence Similarities
Belongs to the tropomyosin family.
Cellular localization
- Cytoplasm
- Cytoskeleton
Alternative names
Tropomyosin alpha-3 chain, Gamma-tropomyosin, Tropomyosin-3, Tropomyosin-5, hTM5, TPM3