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deletion of the delta-sarcoglycan gene produced disrupted flight muscles with shortened sarcomeres and disorganized M lines
Protein required for muscle organization.
delta-sarcoglycan plays an important role in early heart and muscle development.
Study identified 2 non-synonymous missense mutations: c.C652T, p.R218W in ACVRL1, c.C717G, p.D239E in SGCD in Chinese population with total anomalous pulmonary venous return.
Dilated cardiomyopathy mutations in delta-sarcoglycan can exert a dominant negative effect on dystrophin-glycoprotein complex function leading to myocardial mechanical instability that may underlie the pathogenesis of delta-sarcoglycan-associated DCM.
haplotype -_G composed of c.-100~-110 and A848G confers higher susceptibility to dilated cardiomyopathy in the Mongoloid population.
CC genotype of the delta-sarcoglycan gene polymorphism rs13170573 is associated with obstructive sleep apnea in the Chinese population
Genetic variation at the delta-sarcoglycan locus elevates heritable sympathetic nerve activity in human twin pairs
Finding questions the pathological relevance of sequence variant of the delta-sarcoglycan gene for causing familial autosomal-dominant dilated cardiomyopathy.
These data suggest that formation of the beta-delta-core may promote the export and deposition of sarcoglycan subcomplexes at the plasma membrane, and therefore identifies a mechanism for sarcoglycan transport.
The 5'-UTR G to C polymorphism on delta-sarcoglycan gene was associated with coronary spasm in Japanese patients with hypertrophic cardiomyopathy.
The limb-girdle muscular dystrophy patients with delta-sarcoglycan deficient LGMD2F do not enable an accurate prediction of the genotype.
The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene.
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
, sarcoglycan delta
, sarcoglycan, delta (dystrophin-associated glycoprotein)
, 35 kDa dystrophin-associated glycoprotein
, dystrophin associated glycoprotein, delta sarcoglycan
, placental delta sarcoglycan
, delta sarcoglycan
, sarcoglycan, delta (35kD dystrophin-associated glycoprotein)