rs404005

This is a intron variant variant in the SLC8A1 gene.

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Research that mentions this SNP (1)

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Genome‐wide association study of neurocognitive impairment and dementia in HIV‐infected adults
AssociationN=1,287Andrew J. Levine et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

First genome-wide association study (GWAS) of HIV-associated neurocognitive disorders (HAND) in 1287 HIV-infected adults from the Multicenter AIDS Cohort Study. The study examined neurocognitive decline in processing speed and executive functioning over time, as well as prevalence of HIV-associated dementia and neurocognitive impairment across ~2.5 million SNPs. No genome-wide significant associations were identified with any neurocognitive phenotype examined. Previously reported candidate gene associations with HAND (including rs1130371 in MIP1α, rs1800629 in TNFα, rs1801157 in SDF-1, and rs2839619 in PREP1) were not validated in this study.

Traits studied:Executive functioning declineHIV-associated dementia (HAD)HIV-associated neurocognitive disorder (HAND)Neurocognitive impairment (NCI)Processing speed decline
PubMedDOIMetascience Observatory

About SLC8A1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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