SGCG (Sarcoglycan Gamma) Gene
SGCG: A Critical Component of the Dystrophin-Glycoprotein Complex in Muscle Integrity and Disease
Gene Information Card
| Symbol | SGCG |
|---|---|
| Full Name | sarcoglycan gamma |
| Gene Type | protein-coding |
| Chromosomal Location | 13q12.12 |
| NCBI Gene ID | 6445 ncbi.nlm.nih.gov/gene/6445 |
| Ensembl ID | ENSG00000102683 |
| UniProt ID | Q13326 |
| OMIM ID | 608896 |
| HGNC ID | 10807 |
| Aliases | 35DAG, DAGB, gamma-SG, LGMD2C, SCG3 |
Description
The SGCG gene encodes gamma-sarcoglycan, a transmembrane glycoprotein that is a component of the dystrophin-glycoprotein complex (DGC). This complex links the cytoskeleton to the extracellular matrix, providing structural stability to muscle fibers. Mutations in SGCG cause limb-girdle muscular dystrophy type 2C (LGMD2C), an autosomal recessive disorder characterized by progressive muscle weakness and wasting.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Limb-girdle muscular dystrophy type 2C (LGMD2C) | Loss-of-function mutations in SGCG disrupt the dystrophin-glycoprotein complex, leading to sarcolemmal instability and muscle fiber degeneration. | ClinVar, OMIM |
| Dilated cardiomyopathy (rare association) | Secondary cardiac involvement due to loss of gamma-sarcoglycan in cardiac muscle, compromising membrane integrity. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 28.5 | High |
| Heart | 18.2 | Medium |
| Smooth muscle | 6.1 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH-30 (rhabdomyosarcoma) | 32.1 | High expression |
| HSMM (skeletal muscle myoblasts) | 25.4 | High expression |
| H9c2 (rat cardiomyocytes) | 15.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.525delT (p.Phe175Leufs*38) | Frameshift deletion | Common in North African populations | Loss of protein function |
| c.87C>A (p.Cys29*) | Nonsense | Rare | Premature truncation, loss of function |
| c.229C>T (p.Arg77*) | Nonsense | Found in several LGMD2C families | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SGCG mutations are loss-of-function (nonsense, frameshift, splice-site), leading to absence or severe reduction of gamma-sarcoglycan protein.
Gain of Function (GOF)
No gain-of-function mutations reported for SGCG.
Dominant Negative (DN)
No dominant-negative mutations reported; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Dystrophin-associated glycoprotein complex (Reactome: R-HSA-390522)
• Striated muscle contraction (Reactome: R-HSA-397014)
Protein Summary
Gamma-sarcoglycan is a 35 kDa transmembrane protein with a single membrane-spanning domain. It forms a subcomplex with alpha-, beta-, and delta-sarcoglycan within the dystrophin-glycoprotein complex. This complex stabilizes the sarcolemma during muscle contraction. Loss of gamma-sarcoglycan leads to membrane fragility and progressive muscle degeneration, characteristic of LGMD2C.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SGCG Knockout HEK293 Cell Line | EDJ-KQ2755 | Human | 6445 | Details Get a Quote |
| SGCG Knockout HeLa Cell Line | EDJ-KQ54456 | Human | 6445 | Details Get a Quote |
| SGCG Knockout A-549 Cell Line | EDJ-KQ62944 | Human | 6445 | Details Get a Quote |
| SGCG Knockout HCT 116 Cell Line | EDJ-KQ71416 | Human | 6445 | Details Get a Quote |
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