The SNTA1 gene homepage
| General information |
| Gene symbol |
SNTA1 |
| Gene name |
syntrophin, alpha 1 |
| Chromosome |
20 |
| Chromosomal band |
q11.2 |
| Imprinted |
- |
| Genomic reference |
NG_011622.1 |
| Transcript reference |
NM_003098.2 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
10 |
| Unique public DNA variants reported |
9 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as: SNT1; LQT12; TACIP1; dJ1187J4.5 |
| Date created |
May 04, 2013 |
Active transcripts
| Copyright & disclaimer |
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