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SGCG encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. Zusätzlich bieten wir Ihnen Sarcoglycan, gamma (35kDa Dystrophin-Associated Glycoprotein) Antikörper (43) und und viele weitere Produktgruppen zu diesem Protein an.
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This study showed that fifteen families were shown to carry SGCG variants in patient with early onset severe muscular dystrophy.
FADH2-dependent monooxygenase (SgcE6 and SgcC) that catalyzes the hydroxylation of a PCP-tethered substrate
These results position archvillin as a mechanically sensitive component of the dystrophin complex and demonstrate that signaling defects caused by loss of gamma-SG occur both at the sarcolemma and in the nucleus.
A report of two siblings with severe childhood onset limb-girdle muscular dystrophy type 2C supports the theory that the mutation G787A in the SGCG gene is a founder mutation.
Molecular epidemiologic methods were used to calculate the frequency of heterozygotes for this SGCG mutation in Moroccan newborns and to estimate the prevalence of LGMD2C in the Moroccan population.
Data suggest that an SNP in an intron of SGCG (rs9552911) is associated with type 2 diabetes [Genome-Wide Association Study in Sikh populations in India & Meta-Analysis]
The C allele of the c.-94C>G polymorphism in delta-sarcoglycan is a risk factor for HCM, which is increased by the Amerindian component and can play an important role in the etiology and progression of disease in Mexican patients
four Greek Gypsy patients with limb girdle muscular dystrophy type 2C carried the same homozygous C283Y mutation in the gamma-sarcoglycan gene
The relative incidence of LGMD2C among Japanese Duchenne muscular dystrophy-like patients can be calculated as 1 in 161 patients suspected to have Duchenne muscular dystrophy.
Clinical, histologic, and immunohistochemical characteristics of three children with limb-girdle muscular dystrophy type 2C. Two novel mutations in the gamma-sarcoglycan gene were present. We found phenotypic differences in two brothers.
two unrelated patients of Puerto Rican descent who have identical previously undescribed homozygous E263K (G787A) missense mutations on exon 8, and a white North American child with del521T on one allele and a deletion of exon 6 on the other allele.
Biglycan is a ligand for two members of the sarcoglycan complex and regulates their expression at discrete developmental ages.
The limb-girdle muscular dystrophy patients with gamma-sarcoglycan deficient LGMD2C do not enable an accurate prediction of the genotype.
This study, the first mutational analysis of Indian patients with sarcoglycanopathies suggests gamma SG mutations were the most common and the most prevalent mutation in the gamma SG gene was 525del.T.
This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C).
, 35 kDa dystrophin-associated glycoprotein
, 35kD dystrophin-associated glycoprotein
, gamma sarcoglycan
, sgcg gene for gamma-sarcoglycan
, sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)