Sarcospan
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| sarcospan | |
|---|---|
| Identifiers | |
| Symbol | SSPN |
| NCBI gene | 8082 |
| HGNC | 11322 |
| OMIM | 601599 |
| Other data | |
| Locus | Chr. 12 p11.2 |
Sarcospan, discovered by the research group of Kevin Campbell, is a 25-kDa transmembrane protein located in the dystrophin-associated protein complex of skeletal muscle cells. It contains four transmembrane spanning helices with both N- and C-terminal domains located intracellularly.[1] Loss of sarcospan expression occurs in patients with Duchenne muscular dystrophy, indicating that dystrophin is required for proper localization of sarcospan.[1] Interestingly, sarcospan knockout mice exhibit normal muscle structure and function, indicating that sarcospan is not necessary for muscle to develop.[2]
References
- ^ a b Crosbie; et al. (1997). "Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex". J Biol Chem. 272 (50): 31221–4. PMID 9395445.
{{cite journal}}: Explicit use of et al. in:|author=(help) - ^ Lebakken; et al. (2000). "Sarcospan-deficient mice maintain normal muscle function". Mol Cell Biol. 20 (5): 1669–77. PMID 10669744.
{{cite journal}}: Explicit use of et al. in:|author=(help)
External links
- Sarcospan at the U.S. National Library of Medicine Medical Subject Headings (MeSH)