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: SLC8A1-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs404005 in SLC8A1;SLC8A1-AS1 gene and AIDS Dementia Complex PMID 22628157 2012 Genome-wide association study of neurocognitive impairment and dementia in HIV-infected adults.

rs1641457 in SLC8A1;SLC8A1-AS1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.