Protein Name syntrophin alpha 1
Organism Homo sapiens
Gene ID 6640
Gene Symbol

SNTA1

UniProt Q13424 (SNTA1_HUMAN)
Relationships Total Number of functionally related compound(s) : 13
Total Number of Articles : 17
Description

syntrophin alpha 1

Gene Summary

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]

synonyms
  • alpha-1-syntrophin
  • 59 kDa dystrophin-associated protein A1 acidic component 1
  • acidic alpha 1 syntrophin
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Properties