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. Defects in SGCD are the cause of limb-girdle muscular dystrophy type 2F (LGMD2F) [MIM:601287]. LGMD2F is an autosomal recessive disorder. Defects in SGCD are the cause of cardiomyopathy dilated type 1L (CMD1L) [MIM:606685]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Background References
1. Vanhoutte D et al. Thrombospondin expression in myofibers stabilizes muscle membranes. Elife 5:N/A (2016).
Sequence Similarity
Belongs to the sarcoglycan beta/delta/gamma/zeta family.
Tissue Specificity
Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.
Immunohistochemical analysis of paraffin-embedded human stomach carcinoma tissue using anti-delta Sarcoglycan antibody. The section was pre-treated using heat mediated antigen retrieval with Tris-EDTA buffer (pH 8.0-8.4) for 20 minutes.The tissues were blocked in 5% BSA for 30 minutes at room temperature, washed with ddH2O and PBS, and then probed with the primary antibody (ET1703-88, 1/50) for 30 minutes at room temperature. The detection was performed using an HRP conjugated compact polymer system. DAB was used as the chromogen. Tissues were counterstained with hematoxylin and mounted with DPX.
Western blot analysis of delta Sarcoglycan on A549 cell lysate with Rabbit anti-delta Sarcoglycan antibody (ET1703-88) at 1/2,000 dilution.
Lysates/proteins at 20 µg/Lane. Exposure time: 46 seconds; ECL: K1801
Blocking: 5% NFDM/TBST, 1 hour at room temperature Primary antibody: ET1703-88, 1/2,000 in primary antibody dilution buffer (K1803), overnight at 4 ℃ Secondary antibody: Goat anti-Rabbit IgG-HRP (HA1001), 1/50,000 in 5% NFDM/TBST, 1 hour at room temperature
Predicted band size: 32 kDa Observed band size: 37 kDa
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