SGCE wt Allele

Preferred Label : SGCE wt Allele;

NCIt synonyms : Sarcoglycan Epsilon wt Allele; Dystonia 11, Myoclonic Gene; ESG; UNQ433/PRO840; Epsilon-SG Gene; DYT11; Sarcoglycan, Epsilon Gene;

NCIt definition : Human SGCE wild-type allele is located in the vicinity of 7q21.3 and is approximately 132 kb in length. This allele, which encodes epsilon-sarcoglycan protein, plays a role in linking the actin cytoskeleton and the extracellular matrix. Mutations in the gene are associated with myoclonic dystonia 11.;

NCI Metathesaurus CUI : CL1927128;

GenBank Accession Number : AF036364;

Détails

Origin ID

C205060;

OMIM relation
- Sarcoglycan, epsilon [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q21.3 [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) :

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