功能: disease:Defects in SGCG are the cause of limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700]. LGMD2C is characterized by progressive muscle wasting from early childhood.,function:Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.,online information:SGCG mutations in LGMD2C,similarity:Belongs to the sarcoglycan beta/delta/gamma/zeta family.,subunit:Interacts with the syntrophin SNTA1. Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans (By similarity). Interacts with FLNC.,tissue specificity:Expressed in skeletal and heart muscle.,
相關(guān)產(chǎn)品: RS0001,RS0002,YM3028,YM3029
細胞定位: Cell membrane, sarcolemma ; Single-pass type II membrane protein . Cytoplasm, cytoskeleton .
功能: disease:Defects in SGCG are the cause of limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700]. LGMD2C is characterized by progressive muscle wasting from early childhood.,function:Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.,online information:SGCG mutations in LGMD2C,similarity:Belongs to the sarcoglycan beta/delta/gamma/zeta family.,subunit:Interacts with the syntrophin SNTA1. Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans (By similarity). Interacts with FLNC.,tissue specificity:Expressed in skeletal and heart muscle.,
相關(guān)產(chǎn)品: RS0001,RS0002,YM3028,YM3029
細胞定位: Cell membrane, sarcolemma ; Single-pass type II membrane protein . Cytoplasm, cytoskeleton .
組織表達: Expressed in skeletal and heart muscle.
科研貨號: PLA021089
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