Background |
Desmin belongs to the type III family of intermediate filaments, a class of cytoskeletal elements. DES gene encodes desmin, a muscle-specific cytoskeletal protein found in smooth, cardiac, and heart muscles. Tidball (1992) found that desmin was codistributed with actin thin filaments within the cellular processes of myotendinous junctions in frog skeletal muscle. DES gene contains 9 exons and spans about 8.4 kb. By in situ hybridization, Viegas-Pequignot et al. (1989) localized the gene to 2q35. Desmin mutation responsible for idiopathic dilated cardiomyopathy. |
References |
- 1. Tidball, J. G. : Desmin at myotendinous junctions. Exp. Cell Res. 199: 206-212, 1992.
- 2. Viegas-Pequignot, E., Lin, L. Z., Dutrillaux, B., Apiou, F., Paulin, D. : Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization. Hum. Genet. 83: 33-36, 1989.
- 3. Li, D., Tapscoft, T., Gonzalez, O., Burch, P. E., Quinones, M. A., Zoghbi, W. A., Hill, R., Bachinski, L. L., Mann, D. L., Roberts, R. : Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 100: 461-464, 1999.
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