Tropomyosin 2 Beta (TPM2)

AMCD1; DA1; TMSB; Arthrogryposis Multiplex Congenital,Distal,Type 1

SPN	T334
HGNC	12011
MGI	98810
PubMed	11738357
RGD	1559479
UniProt	P07951
Wiki	TPM2

TPM2 isbeta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

TPM2 gene in 14 probands with DA1. Only a single mutation was found. This was a C-to-G transversion in nucleotide 271 that resulted in an arginine-to-glycine substitution at amino acid residue 91 (arg91 to gly). It was found in the proband and affected family members of the kindred originally used to map DA1 to chromosome 9.

Reference

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"Mutations in the beta-tropomyosin (TPM2) gene -- a rare cause of nemaline myopathy."
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"Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes."
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"Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)."
Arch. Neurol. 64:1334-1338(2007) [PubMed] [Europe PMC] [Abstract]

"Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation."
Neurology 68:772-775(2007) [PubMed] [Europe PMC] [Abstract]

"Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2."
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"New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations."
Neurology 71:1896-1901(2008) [PubMed] [Europe PMC] [Abstract]

"Cap disease due to mutation of the beta-tropomyosin gene (TPM2)."
Neuromuscul. Disord. 19:348-351(2009) [PubMed] [Europe PMC] [Abstract]

"Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies."
Hum. Mutat. 35:779-790(2014) [PubMed] [Europe PMC] [Abstract]