SGCA wt Allele

Preferred Label : SGCA wt Allele;

NCIt synonyms : DMDA2; 50DAG; LGMDR3; Limb Girdle Muscular Dystrophy 2D Gene; Sarcoglycan, Alpha Gene; 50-DAG; SCARMD1; 50kD DAG; Dystrophin-Associated Glycoprotein, 50-kD Gene; Adhalin Gene; LGMD2D; Sarcoglycan, Alpha (50kDa Dystrophin-Associated Glycoprotein) Gene; DAG2; ADL; Sarcoglycan Alpha wt Allele;

NCIt definition : Human SGCA wild-type allele is located in the vicinity of 17q21.33 and is approximately 12 kb in length. This allele, which encodes alpha-sarcoglycan protein, is involved in the stability of muscle fiber membranes and linking the actin cytoskeleton to the extracellular matrix. Mutations in the gene are associated with autosomal recessive limb-girdle muscular dystrophy-3 (limb-girdle muscular dystrophy type 2D).;

GenBank Accession Number : L34355;

Details

Origin ID

C207872;

OMIM relation
- Sarcoglycan, alpha [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
- Viral Myocarditis Pathway [NCIt concept]
gene_plays_role_in_process
- Cell-Matrix Adhesion Process [NCIt concept]
- Muscle Contraction [NCIt concept]
- Myogenesis [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients