SNTA1 wt Allele

Preferred Label : SNTA1 wt Allele;

NCIt synonyms : Syntrophin, Alpha 1 (Dystrophin-Associated Protein A1, 59kD, Acidic Component) Gene; LQT12; TACIP1; Syntrophin Alpha 1 wt Allele; Acidic Alpha 1 Syntrophin Gene; dJ1187J4.5; SNT1; Syntrophin 1 Gene; Dystrophin-Associated Protein A1, 59kDa, Acidic Component Gene; Syntrophin-1 Gene;

NCIt definition : Human SNTA1 wild-type allele is located in the vicinity of 20q11.21 and is approximately 36 kb in length. This allele, which encodes alpha-1-syntrophin protein, plays a role in coupling cell surface receptors and sodium channel proteins to the dystrophin-associated protein complex. Mutations in the gene are associated with long QT syndrome 12.;

GenBank Accession Number : U40571;

Details

Origin ID

C208008;

OMIM relation
- Syntrophin, alpha-1 [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]
- p38-gamma and p38-delta Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Muscle Contraction [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

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