Open Access Articles- Top Results for Syntrophin, alpha 1

Syntrophin, alpha 1

SymbolsSNTA1 ; LQT12; SNT1; TACIP1; dJ1187J4.5
External IDsOMIM601017 MGI101772 HomoloGene2331 GeneCards: SNTA1 Gene
RNA expression pattern
File:PBB GE SNTA1 203516 at tn.png
More reference expression data
RefSeq (mRNA)NM_003098NM_009228
RefSeq (protein)NP_003089NP_033254
Location (UCSC)Chr 20:
32 – 32.03 Mb
Chr 2:
154.38 – 154.41 Mb
PubMed search[1][2]

Alpha-1-syntrophin is a protein that in humans is encoded by the SNTA1 gene.[1][2][3]


Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally related genes.[3] The PDZ domain of syntrophin-α1(SNTA1), the most abundant isoform in the heart, has been reported to bind to the C-terminal domain of murine cardiac voltage-gated sodium channels (SkM2) causing altering ion channel activity leading to Long QT syndrome.[4][5]


Syntrophin, alpha 1 has been shown to interact with Dystrophin,[1][6][7] Nav1.1[7] and Nav1.5.[7]


  1. 1.0 1.1 Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM (Mar 1996). "The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives". J Biol Chem 271 (5): 2724–30. PMID 8576247. doi:10.1074/jbc.271.5.2724. 
  2. Castelló A, Brochériou V, Chafey P, Kahn A, Gilgenkrantz H (Jun 1996). "Characterization of the dystrophin-syntrophin interaction using the two-hybrid system in yeast". FEBS Lett 383 (1-2): 124–8. PMID 8612778. doi:10.1016/0014-5793(96)00214-1. 
  3. 3.0 3.1 "Entrez Gene: SNTA1 syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)". 
  4. Wu G, Ai T, Kim JJ, Mohapatra B, Xi Y, Li Z et al. (Aug 2008). "Alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.". Circ Arrhytm Electrophysiol 1 (3): 193–201. PMC 2726717. PMID 19684871. doi:10.1161/CIRCEP.108.769224. 
  5. Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA et al. (2009). "The genetic basis of long QT and short QT syndromes: a mutation update.". Human Mutation 30 (11): 1486–511. PMID 19862833. doi:10.1002/humu.21106. 
  6. Yang B, Jung D, Rafael JA, Chamberlain JS, Campbell KP (Mar 1995). "Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, and utrophin". J. Biol. Chem. 270 (10): 4975–8. PMID 7890602. doi:10.1074/jbc.270.10.4975. 
  7. 7.0 7.1 7.2 Gee SH, Madhavan R, Levinson SR, Caldwell JH, Sealock R, Froehner SC (Jan 1998). "Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins". J. Neurosci. 18 (1): 128–37. PMID 9412493. 

Further reading