From Wikipedia, the free encyclopedia
Sarcoglycan beta/gamma/delta
Identifiers
SymbolSarcoglycan_1
Pfam PF04790
InterPro IPR006875
Membranome 117
Available protein structures:
Pfam   structures / ECOD  
PDB RCSB PDB; PDBe; PDBj
PDBsum structure summary
Sarcoglycan alpha/epsilon
Identifiers
SymbolSarcoglycan_2
Pfam PF05510
InterPro IPR008908
Available protein structures:
Pfam   structures / ECOD  
PDB RCSB PDB; PDBe; PDBj
PDBsum structure summary

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 six muscle-specific, transmembrane proteins (alpha-, beta-, gamma-, delta-, epsilon-,and zeta-sarcoglycan). [2] The sarcoglycans are asparagine-linked glycosylated proteins with single transmembrane domains. [3] [4]

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

  1. ^ Sarcoglycans at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
  2. ^ "SGCZ sarcoglycan zeta [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 1 December 2021.
  3. ^ Chockalingam PS, Cholera R, Oak SA, Zheng Y, Jarrett HW, Thomason DB (August 2002). "Dystrophin-glycoprotein complex and Ras and Rho GTPase signaling are altered in muscle atrophy". American Journal of Physiology. Cell Physiology. 283 (2): C500-11. doi: 10.1152/ajpcell.00529.2001. PMID  12107060.
  4. ^ Wheeler MT, Zarnegar S, McNally EM (September 2002). "Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy". Human Molecular Genetics. 11 (18): 2147–54. doi: 10.1093/hmg/11.18.2147. PMID  12189167.
This article incorporates text from the public domain Pfam and InterPro: IPR006875
From Wikipedia, the free encyclopedia
Sarcoglycan beta/gamma/delta
Identifiers
SymbolSarcoglycan_1
Pfam PF04790
InterPro IPR006875
Membranome 117
Available protein structures:
Pfam   structures / ECOD  
PDB RCSB PDB; PDBe; PDBj
PDBsum structure summary
Sarcoglycan alpha/epsilon
Identifiers
SymbolSarcoglycan_2
Pfam PF05510
InterPro IPR008908
Available protein structures:
Pfam   structures / ECOD  
PDB RCSB PDB; PDBe; PDBj
PDBsum structure summary

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 six muscle-specific, transmembrane proteins (alpha-, beta-, gamma-, delta-, epsilon-,and zeta-sarcoglycan). [2] The sarcoglycans are asparagine-linked glycosylated proteins with single transmembrane domains. [3] [4]

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

  1. ^ Sarcoglycans at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
  2. ^ "SGCZ sarcoglycan zeta [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 1 December 2021.
  3. ^ Chockalingam PS, Cholera R, Oak SA, Zheng Y, Jarrett HW, Thomason DB (August 2002). "Dystrophin-glycoprotein complex and Ras and Rho GTPase signaling are altered in muscle atrophy". American Journal of Physiology. Cell Physiology. 283 (2): C500-11. doi: 10.1152/ajpcell.00529.2001. PMID  12107060.
  4. ^ Wheeler MT, Zarnegar S, McNally EM (September 2002). "Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy". Human Molecular Genetics. 11 (18): 2147–54. doi: 10.1093/hmg/11.18.2147. PMID  12189167.
This article incorporates text from the public domain Pfam and InterPro: IPR006875

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