SGCA Gene Summary [Human]
This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Details
| Type | Processed Transcript |
| Official Symbol | SGCA |
| Official Name | sarcoglycan alpha [Source:HGNC Symbol;Acc:HGNC:10805] |
| Ensembl ID | ENSG00000108823 |
| Bio databases IDs | |
| Aliases | sarcoglycan alpha, 50kD DAG, adhalin, limb girdle muscular dystrophy 2D |
| Synonyms | 50-DAG, adhalin, ADL, alpha SARCOGLYCAN, Asg, DAG2, DMDA2, LGMD2D, LGMDR3, SARCOGLYCAN alpha, sarcoglycan, alpha, sarcoglycan, alpha (dystrophin-associated glycoprotein), Sarcoglycan α, sarcoglycan, α, sarcoglycan, α (dystrophin-associated glycoprotein), SCARMD1, α SARCOGLYCAN |
| 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 SGCA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sarcoglycan alpha/epsilon
- X25 domain of Bacillus acidopullulyticus pullulanase and similar proteins
- intracellular domain
- Cadherin repeat-like domain
- protein binding
- Dystroglycan-type cadherin-like domains
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- limb-girdle muscular dystrophy type 2D
- dystrophy
- limb-girdle muscular dystrophy type 2
- sarcoglycanopathies
- muscular dystrophy
- fibrosis
- cardiac fibrosis
- cardiomyopathy
- limb-girdle muscular dystrophy type 2B
- centronuclear myopathy
role in cell
- damage
- organization
- centralization
- abnormal morphology
- replication in
- permeability
- centralization in
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
- intercellular junctions
- endoplasmic reticulum membrane
- microsome
- Golgi membrane
- sarcolemma
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SGCA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- response to denervation involved in regulation of muscle adaptation
- muscle contraction
- skeletal muscle tissue regeneration
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- cell-cell junction
- cytoplasm
- sarcolemma
- membrane raft
- dystrophin-associated glycoprotein complex
- sarcoglycan complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding