This gene encodes beta-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.[provided by RefSeq, Mar 2009].
Abdul-Hussein, Rahl, Moslemi, Tajsharghi: "Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures." in: PLoS ONE, Vol. 8, Issue 9, pp. e72396, (2013) (PubMed).
Tajsharghi, Ohlsson, Lindberg, Oldfors: "Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)." in: Archives of neurology, Vol. 64, Issue 9, pp. 1334-8, (2007) (PubMed).