Gene Symbol | TPM2 |
Entrez Gene ID | 7169 |
Full Name | tropomyosin 2 |
Synonyms | AMCD1,DA1,DA2B,HEL-S-273,NEM4,TMSB |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Arthrogryposis multiplex congenita, distal, type 1, 108120 (3); Arthrogryposis, distal, type 2B, 601680 (3); Nemaline myopathy 4, autosomal dominant, 609285 (3); CAP myopathy 2, 609285 (3) |