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SNTA1 / Syntrophin Alpha 1
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.
| Gene Name: | syntrophin, alpha 1 |
| Synonyms: | SNTA1, Acidic alpha 1 syntrophin, DJ1187J4.5, Alpha-1-syntrophin, SNT1, Syntrophin Alpha 1, Syntrophin, alpha 1, Syntrophin-1, LQT12, TACIP1 |
| Target Sequences: | NM_003098 NP_003089.1 Q13424 |
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