Human SGCD Recombinant Protein (RPPB4660)
- SKU:
- RPPB4660
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- Q92629
Description
| Product Name: | Human SGCD Recombinant Protein |
| Product Code: | RPPB4660 |
| Size: | 20µg |
| Species: | Human |
| Target: | SGCD |
| Synonyms: | 35DAG, CMD1L, DAGD, SG-delta, SGCDP, SGD, Delta-sarcoglycan, 35 kDa dystrophin-associated glycoprotein. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | SGCD protein solution (1mg/ml) containing 20mM Tris-HCl buffer (pH 8.0), 0.4M Urea and 10% glycerol. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 85% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH RSHMKVMNFT IDGMGNLRIT EKGLKLEGDS EFLQPLYAKE IQSRPGNALY FKSARNVTVN ILNDQTKVLT QLITGPKAVE AYGKKFEVKT VSGKLLFSAD NNEVVVGAER LRVLGAEGTV FPKSIETPNV RADPFKELRL ESPTRSLVME APKGVEINAE AGNMEATCRT ELRLESKDGE IKLDAAKIRL PRLPHGSYTP TGTRQKVFEI CVCANGRLFL SQAGAGSTCQ INTSVCL |
Sarcoglycan Delta (SGCD) is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC) and is expressed mainly in skeletal and cardiac muscle. DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. SGCD protein�s mutations have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. SGCD gene expression is regulated by MITF In melanocytic cells.
SGCD Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 257 amino acids (57-289a.a) and having a molecular mass of 28kDa. SGCD is fused to a 24 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| 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 |
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