Basic Information

Symbol
SNTA1
RNA class
mRNA
Alias
Syntrophin Alpha 1 TACIP1 Pro-TGF-Alpha Cytoplasmic Domain-Interacting Protein 1 LQT12 SNT1 59 KDa Dystrophin-Associated Protein A1 Acidic Component 1 Dystrophin-Associated Protein A1, 59kDa, Acidic Component Alpha-1-Syntrophin Syntrophin-1 Syntrophin, Alpha 1 (Dystrophin-Associated Protein A1, 59kD, Acidic Component) Acidic Alpha 1 Syntrophin DJ1187J4.5
Location (GRCh38)
20:33407955-33443885
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_003098.3
Sequence length
2211.0 nt
GC content
0.6409

Transcripts

ID Sequence Length GC content
NM_001424413.1 NCBI
AGAGCUCCUCCCCCAGCGGCCGGGGUAGGGUGGCGGCUGGCCCAGCCGG… 2208 nt 0.6409
NM_001424414.1 NCBI
AGAGCUCCUCCCCCAGCGGCCGGGGUAGGGUGGCGGCUGGCCCAGCCGG… 2243 nt 0.6407
NM_003098.3 NCBI
AGAGCUCCUCCCCCAGCGGCCGGGGUAGGGUGGCGGCUGGCCCAGCCGG… 2211 nt 0.6409
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]

Forensic Context

No relevant information is available at the moment.