SGCD Antibody

1. 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. PMID: 28412737
2. 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. PMID: 26968544
3. haplotype -_G composed of c.-100~-110 and A848G confers higher susceptibility to dilated cardiomyopathy in the Mongoloid population. PMID: 26720722
4. CC genotype of the delta-sarcoglycan gene polymorphism rs13170573 is associated with obstructive sleep apnea in the Chinese population PMID: 25474115
5. Genetic variation at the delta-sarcoglycan locus elevates heritable sympathetic nerve activity in human twin pairs PMID: 23786442
6. Finding questions the pathological relevance of sequence variant of the delta-sarcoglycan gene for causing familial autosomal-dominant dilated cardiomyopathy. PMID: 19259135
7. The 5'-UTR G to C polymorphism on delta-sarcoglycan gene was associated with coronary spasm in Japanese patients with hypertrophic cardiomyopathy. PMID: 17652892
8. The limb-girdle muscular dystrophy patients with delta-sarcoglycan deficient LGMD2F do not enable an accurate prediction of the genotype. PMID: 18996010

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HGNC: 10807

OMIM: 601287

KEGG: hsa:6444

STRING: 9606.ENSP00000338343

UniGene: Hs.387207