SNTA1

Name

syntrophin alpha 1

Type

protein-coding

Aliases

LQT12, SNT1, TACIP1, dJ1187J4.5

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].

via MyGene.info

Gene · Ensembl

syntrophin alpha 1

Symbol

SNTA1

Biotype

Protein coding

Organism

Homo sapiens

Location

20:33,407,955-33,443,897

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Instance of

gene

Image

Protein SNTA1 PDB 1qav.png

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