SGCG Gene Summary [Human]
This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | SGCG |
| Official Name | sarcoglycan gamma [Source:HGNC Symbol;Acc:HGNC:10809] |
| Ensembl ID | ENSG00000102683 |
| Bio databases IDs | |
| Aliases | sarcoglycan gamma, Maghrebian myopathy (autosomal recessive), 35kD dystrophin-associated glycoprotein, limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive), gamma sarcoglycan |
| Synonyms | 35DAG, 5430420E18RIK, A4, DAGA4, DMDA, DMDA1, Gamma sacroglycan, gamma SARCOGLYCAN, gamma-SG, Gsg, LGMD2C, LGMDR5, MAM, sarcoglycan gamma, sarcoglycan, gamma, sarcoglycan, gamma (dystrophin-associated glycoprotein), Sarcoglycan γ, sarcoglycan, γ, sarcoglycan, γ (dystrophin-associated glycoprotein), SCARMD2, SCG3, γ sacroglycan, γ SARCOGLYCAN, γ-SG |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SGCG often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- intracellular domain
- Sarcoglycan complex subunit protein
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- ovarian carcinoma
- acute myeloid leukemia
- dystrophy
- limb-girdle muscular dystrophy type 2C
- asthma
- growth failure
- limb-girdle muscular dystrophy type 2
- diabetic peripheral neuropathy
- major depression
- alcoholism
role in cell
- apoptosis
- organization
- size
- morphology
- function
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- microsomal fraction
- endoplasmic reticulum membrane
- microsome
- sarcolemma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SGCG gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- heart contraction
- gene expression
- cardiac muscle tissue development
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- cytoplasm
- sarcolemma
- sarcoglycan complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding