TPM3, Official Symbol TPM3provided by HGNC Official Full Name tropomyosin 3provided by HGNC Primary source HGNC:HGNC:12012 See related Ensembl:ENSG00000143549 MIM:191030; AllianceGenome:HGNC:12012 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TM3; TM5; TRK; CFTD; NEM1; TM-5; TM30; CAPM1; CMYP4A; CMYP4B; TM30nm; TPM3nu; TPMsk3; hscp30; HEL-189; HEL-S-82p; OK/SW-cl.5 Summary 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] Expression Ubiquitous expression in bone marrow (RPKM 43.6), appendix (RPKM 31.3) and 25 other tissues See more Orthologs mouse all