Gamma-sarcoglycan is a protein that in humans is encoded by the SGCG gene.[5][6] The α to δ-sarcoglycans are expressed predominantly (β) or exclusively (α, γ and δ) in striated muscle.[7] A mutation in any of the sarcoglycan genes may lead to a secondary deficiency of the other sarcoglycan proteins, presumably due to destabilisation of the sarcoglycan complex.[8] The disease-causing mutations in the α to δ genes cause disruptions within the dystrophin-associated protein (DAP) complex in the muscle cell membrane.[9] The transmembrane components of the DAP complex link the cytoskeleton to the extracellular matrix in adult muscle fibres,[10] and are essential for the preservation of the integrity of the muscle cell membrane.[11]
Quick Facts Identifiers, Aliases ...
SGCG |
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Identifiers |
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Aliases | SGCG, A4, DAGA4, DMDA, DMDA1, LGMD2C, MAM, SCARMD2, SCG3, TYPE, 35DAG, gamma-SG, sarcoglycan gamma, LGMDR5 |
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External IDs | OMIM: 608896 MGI: 1346524 HomoloGene: 194 GeneCards: SGCG |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - triceps brachii muscle
- biceps brachii
- thoracic diaphragm
- vastus lateralis muscle
- right ventricle
- body of tongue
- deltoid muscle
- gastrocnemius muscle
- tibialis anterior muscle
- germinal epithelium
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| Top expressed in | - temporal muscle
- soleus muscle
- sternocleidomastoid muscle
- interventricular septum
- vastus lateralis muscle
- myocardium of ventricle
- masseter muscle
- right ventricle
- digastric muscle
- plantaris muscle
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| More reference expression data |
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BioGPS | |
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Wikidata |
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