Sarcoglycan
| Sarcoglycan beta/gamma/delta | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbol | Sarcoglycan_1 | ||||||||
| Pfam | PF04790 | ||||||||
| InterPro | IPR006875 | ||||||||
| |||||||||
| Sarcoglycan alpha/epsilon | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbol | Sarcoglycan_2 | ||||||||
| Pfam | PF05510 | ||||||||
| InterPro | IPR008908 | ||||||||
| |||||||||
The sarcoglycans are a family of transmembrane proteins[1] (α, β, γ, δ or ε) involved in the protein complex responsible for connecting the muscle fibre cytoskeleton to the extracellular matrix, preventing damage to the muscle fibre sarcolemma through shearing forces.
The dystrophin glycoprotein complex (DGC) is a membrane-spanning complex that links the interior cytoskeleton to the extracellular matrix in muscle. The sarcoglycan complex is a subcomplex within the DGC and is composed of several muscle-specific, transmembrane proteins (alpha-, beta-, gamma-, delta- and zeta-sarcoglycan). The sarcoglycans are asparagine-linked glycosylated proteins with single transmembrane domains.[2][3]
The disorders caused by the mutations of the sarcoglycans are called sarcoglycanopathies. Mutations in the α, β, γ or δ genes (not ε) encoding these proteins can lead to the associated limb-girdle muscular dystrophy.
Genes
References
- ↑ Sarcoglycans at the US National Library of Medicine Medical Subject Headings (MeSH)
- ↑ Zheng Y; Chockalingam PS; Cholera R; Oak SA; Jarrett HW; Thomason DB (2002). "Dystrophin-glycoprotein complex and Ras and Rho GTPase signaling are altered in muscle atrophy". Am J Physiol Cell Physiol. 283 (2): –. doi:10.1152/ajpcell.00529.2001. PMID 12107060.
- ↑ Wheeler MT; Zarnegar S; Mcnally EM (2002). "zeta-Sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy". Hum. Mol. Genet. 11 (18): 2147–2154. doi:10.1093/hmg/11.18.2147. PMID 12189167.
This article incorporates text from the public domain Pfam and InterPro IPR006875