| SGCG |
|---|
|
| Identifiers |
|---|
| Aliases | SGCG, A4, DAGA4, DMDA, DMDA1, LGMD2C, MAM, SCARMD2, SCG3, TYPE, 35DAG, gamma-SG, sarcoglycan gamma, LGMDR5 |
|---|
| External IDs | OMIM: 608896; MGI: 1346524; HomoloGene: 194; GeneCards: SGCG; OMA:SGCG - orthologs |
|---|
|
| Gene location (Mouse) |
|---|
| | Chr. | Chromosome 14 (mouse) |
|---|
| | Band | 14|14 D1 | Start | 61,456,564 bp |
|---|
| End | 61,495,939 bp |
|---|
|
| RNA expression pattern |
|---|
| Bgee | | Human | Mouse (ortholog) |
|---|
| Top expressed in | - Skeletal muscle tissue of rectus abdominis
- glutes
- triceps brachii muscle
- biceps brachii
- Skeletal muscle tissue of biceps brachii
- myocardium of left ventricle
- thoracic diaphragm
- vastus lateralis muscle
- cardiac muscle tissue of right atrium
- right ventricle
|
| | Top expressed in | - temporal muscle
- soleus muscle
- sternocleidomastoid muscle
- interventricular septum
- vastus lateralis muscle
- myocardium of ventricle
- masseter muscle
- right ventricle
- digastric muscle
- plantaris muscle
|
| | More reference expression data |
|
|---|
| BioGPS | |
|---|
|
|
|
| Wikidata |
|
Gamma-sarcoglycan is a protein that in humans is encoded by the SGCG gene. The α to δ-sarcoglycans are expressed predominantly (β) or exclusively (α, γ and δ) in striated muscle. A mutation in any of the sarcoglycan genes may lead to a secondary deficiency of the other sarcoglycan proteins, presumably due to destabilisation of the sarcoglycan complex. The disease-causing mutations in the α to δ genes cause disruptions within the dystrophin-associated protein (DAP) complex in the muscle cell membrane. The transmembrane components of the DAP complex link the cytoskeleton to the extracellular matrix in adult muscle fibres, and are essential for the preservation of the integrity of the muscle cell membrane.