TPM3基因突变因子与药物介绍
这个基因编码肌动蛋白结合蛋白原肌球蛋白家族的一个成员。原肌球蛋白是卷曲螺旋蛋白的二聚体，为肌动蛋白丝提供稳定性并调节其他肌动蛋白结合蛋白的进入。该基因突变导致常染色体显性遗传的向列型肌病和其他肌肉疾病。该基因座与其他基因座的易位有关，包括间变性淋巴瘤受体酪氨酸激酶（alk）和神经营养性酪氨酸激酶受体1型（ntrk1），这导致了作为癌基因的融合蛋白的形成。这个基因在不同的染色体上有许多假基因。选择性剪接导致多个转录变体。[由RefSeq提供，2013年5月]
This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
