| UniProt Protein Function: | SGCD: 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). LGMD2F is an autosomal recessive disorder. Defects in SGCD are the cause of cardiomyopathy dilated type 1L (CMD1L). 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. Belongs to the sarcoglycan beta/delta/gamma/zeta family. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Dystrophin complex; Membrane protein, integral Chromosomal Location of Human Ortholog: 5q33-q34 Cellular Component: dystrophin-associated glycoprotein complex; cytoskeleton; cytoplasm; integral to membrane; plasma membrane; sarcoglycan complex; sarcolemma Biological Process: cardiac muscle development; muscle development; heart contraction; muscle cell development Disease: Muscular Dystrophy, Limb-girdle, Type 2f; Cardiomyopathy, Dilated, 1l |
| NCBI Summary: | 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. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q92629 |
| NCBI GenInfo Identifier: | 212276471 |
| NCBI Gene ID: | 6444 |
| NCBI Accession: | Q92629.2 |
| UniProt Secondary Accession: | Q92629,Q53XA5, Q99644, A8K9S9, |
| UniProt Related Accession: | Q92629 |
| Molecular Weight: | 289 |
| NCBI Full Name: | Delta-sarcoglycan |
| NCBI Synonym Full Names: | sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) |
| NCBI Official Symbol: | SGCD |
| NCBI Official Synonym Symbols: | SGD; DAGD; 35DAG; CMD1L; SGCDP; SG-delta |
| NCBI Protein Information: | delta-sarcoglycan; delta-SG; placental delta sarcoglycan; 35 kDa dystrophin-associated glycoprotein; dystrophin associated glycoprotein, delta sarcoglycan |
| UniProt Protein Name: | Delta-sarcoglycan |
| UniProt Synonym Protein Names: | 35 kDa dystrophin-associated glycoprotein; 35DAG |
| Protein Family: | Delta-sarcoglycan |
| UniProt Gene Name: | SGCD |
| UniProt Entry Name: | SGCD_HUMAN |
