Tropomyosin 3 (TPM3)

NEM1; TRK; OK/SW-cl.5; TM-5; TM3; TM30; TM30nm; TPMsk3; Hscp30; Gamma-tropomyosin

SPN	T333
HGNC	12012
MGI	1890149
PubMed	19953533
UniProt	P06753
Wiki	Tropomyosin_3

Tropomyosin alpha-3 chain is a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Mutations in this gene result in autosomal dominant nemaline myopathy, and oncogenes formed by chromosomal translocations involving this locus are associated with cancer. Multiple transcript variants encoding different isoforms have been found for this gene.

Reference

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Nature 322:648-650(1986) [PubMed] [Europe PMC] [Abstract]

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Nucleic Acids Res. 14:8413-8426(1986) [PubMed] [Europe PMC] [Abstract]

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, Submitted (DEC-2005) to UniProtKB

, Submitted (JUL-2007) to UniProtKB

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Erratum
Nat. Genet. 10:249-249(1995) [PubMed] [Europe PMC] [Abstract]

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"Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion."
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"Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia."
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