Gene: LOC101929667

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: SLC8A1

Alternate names for this Gene: NCX1

Gene Summary: In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB209075.1, BC098308.1 [ECO:0000332] ##Evidence-Data-END##

Gene is located in Chromosome: 2

Location in Chromosome : 2p22.1

Description of this Gene: solute carrier family 8 member A1

Type of Gene: protein-coding

rs17026148 in LOC101929667;SLC8A1 gene and Electrocardiogram: P-R interval PMID 29127183 2018 Genome-wide association study of PR interval in Hispanics/Latinos identifies novel locus at ID2.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 25055868 2014 Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.

rs35450971 in LOC101929667;SLC8A1 gene and QT interval feature (observable entity) PMID 29213071 2017 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.