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SNTA1, syntrophin alpha 1

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SNTA1, syntrophin alpha 1

  • Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]

  • Gene Synonyms (alpha-1-syntrophin, 59 kDa dystrophin-associated protein A1 acidic component 1, acidic alpha 1 syntrophin, dystrophin-associated protein A1, 59kDa, acidic component, pro-TGF-alpha cytoplasmic domain-interacting protein 1, syntrophin-1, LQT12, SNT1, TACIP1, dJ1187J4.5,)
  • NCBI Gene ID: 6640
  • Species: Homo sapiens (Human)
  • UNIPROT ID#>>Q13424
  • View the NCBI Database for this Gene »

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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