Gene: SNTA1

Alternate names for this Gene: LQT12|SNT1|TACIP1|dJ1187J4.5

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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.21

Description of this Gene: syntrophin alpha 1

Type of Gene: protein-coding

rs184024562 in SNTA1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs141588480 in SNTA1 gene and High density lipoprotein measurement PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

rs121434500 in SNTA1 gene and Long Qt Syndrome 12 PMID 18591664 2008 Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.

PMID 19684871 2008 alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.