SGCB wt Allele

Preferred Label : SGCB wt Allele;

NCIt synonyms : Limb Girdle Muscular Dystrophy 2E (Non-Linked Families) Gene; SGC; A3b; LGMDR4; Sarcoglycan, Beta (43kDa Dystrophin-Associated Glycoprotein) Gene; Beta-Sarcoglycan(43kD Dystrophin-Associated Glycoprotein) Gene; Dystrophin-Associated Glycoprotein, 43-kD Gene; Sarcoglycan Beta wt Allele; Sarcoglycan, Beta Gene; LGMD2E;

NCIt definition : Human SGCB wild-type allele is located in the vicinity of 4q12 and is approximately 18 kb in length. This allele, which encodes beta-sarcoglycan protein, plays a role in the stablilization of muscle fiber membranes. Mutations in the gene are associated with autosomal recessive limb-girdle muscular dystrophy-4 (limb-girdle muscular dystrophy type 2E).;

GenBank Accession Number : U29586;

Détails

Origin ID

C207875;

OMIM relation
- Sarcoglycan, beta [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 4q12 [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]
- Myogenesis [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients