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Human TPM3 wild-type allele is located in the vicinity of 1q21.2 and is approximately 39 kb in length. This allele, which encodes tropomyosin alpha-3 chain protein, is involved in the mediation of muscle filament movement. Mutation of the gene is associated with nemaline myopathy type 1 and thyroid papillary carcinoma. A chromosomal rearrangement affecting this gene and the NTRK gene is associated with thyroid papillary carcinoma. A chromosomal translocation t(1;2)(q25;p23) of the gene and the ALK gene is associated with rare cases of both anaplastic large cell lymphoma and inflammatory myofibroblastic tumors.
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