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

Gene: LOC101929667

Alternate names for this Gene:

Gene Summary:

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rs17026156 in SLC8A1;LOC101929667 gene and Electrocardiogram: P-R interval PMID 25035420 2014 In addition, C allele of rs17026156 increases PR interval (beta ± SE, 2.39 ± 0.40 ms) and exists far more frequently in East Asians (0.46) than in Europeans and Africans (0.05 and 0.08, respectively).

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

rs12997023 in SLC8A1;LOC101929667 gene and QT interval feature (observable entity) PMID 24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

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

PMID 22726844 2012 Replication studies in independent populations of Korean (n = 4,686) and Japanese (n = 2,687) groups validated the association between a SNP, rs13017846, which maps to near SLC8A1 (sodium/calcium exchanger 1 precursor, overall p = 8.0 × 10(-14)), and the QT interval.