sarcoglycans

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/04/25 14:19:51」(JST)

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Sarcoglycan beta/gamma/delta
Identifiers
Symbol	Sarcoglycan_1
Pfam	PF04790
InterPro	IPR006875
Available protein structures: Pfam structures PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

Sarcoglycan alpha/epsilon
Identifiers
Symbol	Sarcoglycan_2
Pfam	PF05510
InterPro	IPR008908
Available protein structures: Pfam structures PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

The sarcoglycans are a family of transmembrane proteins (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.

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

• SGCA
• SGCB
• SGCD
• SGCE
• SGCG
• SGCZ

References

This article incorporates text from the public domain Pfam and InterPro IPR006875

UpToDate Contents

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• 1. ミオクローヌスの分類および評価 classification and evaluation of myoclonus
• 2. 肢帯型筋ジストロフィー limb girdle muscular dystrophy
• 3. 拡張型心筋症の遺伝学 genetics of dilated cardiomyopathy
• 4. ミオクローヌスの治療 treatment of myoclonus
• 5. 成人における皮膚筋炎および多発性筋炎の診断および鑑別診断 diagnosis and differential diagnosis of dermatomyositis and polymyositis in adults

English Journal

• Metabolic changes in DYT11 myoclonus-dystonia.

• Carbon M, Raymond D, Ozelius L, Saunders-Pullman R, Frucht S, Dhawan V, Bressman S, Eidelberg D.SourceCenter for Neurosciences, The Feinstein Institute for Medical Research, Manhasset, NY, USA.
• Neurology.Neurology.2013 Jan 22;80(4):385-91. doi: 10.1212/WNL.0b013e31827f0798. Epub 2013 Jan 2.
• OBJECTIVE: To identify brain regions with metabolic changes in DYT11 myoclonus-dystonia (DYT11-MD) relative to control subjects and to compare metabolic abnormalities in DYT11-MD with those found in other forms of hereditary dystonia and in posthypoxic myoclonus.METHODS: [(18)F]-fluorodeoxyglucose P
• PMID 23284065

• Marine n3 polyunsaturated fatty acids enhance resistance to mitochondrial permeability transition in heart failure but do not improve survival.

• Galvao TF, Khairallah RJ, Dabkowski ER, Brown BH, Hecker PA, O'Connell KA, O'Shea KM, Sabbah HN, Rastogi S, Daneault C, Des Rosiers C, Stanley WC.SourceDivision of Cardiology, Department of Medicine, University of Maryland, 20 Penn St., Baltimore, MD 21201, USA.
• American journal of physiology. Heart and circulatory physiology.Am J Physiol Heart Circ Physiol.2013 Jan 1;304(1):H12-21. doi: 10.1152/ajpheart.00657.2012. Epub 2012 Oct 26.
• Mitochondrial dysfunction in heart failure includes greater susceptibility to mitochondrial permeability transition (MPT), which may worsen cardiac function and decrease survival. Treatment with a mixture of the n3 polyunsaturated fatty acids (n3 PUFAs) docosahexaenoic acid (DHA) and eicosapentaenoi
• PMID 23103493

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