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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].
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蛋白别名: 59 kDa dystrophin-associated protein A1 acidic component 1; 59 kDa dystrophin-associated protein A1 basic component 1; 59 kDa dystrophin-associated protein A1 basic component 2; 59-1 DAP; acidic alpha 1 syntrophin; Alpha-1-syntrophin; alpha1-syntrophin; Beta-1-syntrophin; Beta-2-syntrophin; beta1-Syntrophin; BSYN2; DAPA1B; dystrophin-associated protein A1, 59kD, basic component 1; dystrophin-associated protein A1, 59kD, basic component 2; dystrophin-associated protein A1, 59kDa, acidic component; Pro-TGF-alpha cytoplasmic domain-interacting protein 1; SNT3; SNTL; syntrophin, acidic 1; syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component); syntrophin, basic 1; syntrophin, basic 2; syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1); syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2); Syntrophin-1; Syntrophin-2; Syntrophin-3; Syntrophin-like; TACIP1; Tax interaction protein 43; TIP-43
基因别名: 59-DAP; A1B; AW228934; BSYN2; D16S2531E; DAPA1B; dJ1187J4.5; EST25263; LQT12; SNT1; SNT2; SNT2B1; SNT2B2; SNT3; SNTA1; SNTB1; SNTB2; SNTL; TACIP1; TIP-43
UniProt ID: (Human) Q13424, (Human) Q13884, (Human) Q13425, (Mouse) Q99L88, (Mouse) Q61235
Entrez Gene ID: (Human) 6640, (Human) 6641, (Human) 6645, (Mouse) 20648, (Rat) 362242, (Mouse) 20649, (Rat) 299940, (Mouse) 20650, (Rat) 689421