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FLASH GENE
Symbol SLC8A1 contributors: mct/npt/pgu - updated : 23-03-2016
HGNC name solute carrier family 8 (sodium/calcium exchanger), member 1
HGNC id 11068
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in hypertrophy and is often found elevated in end-stage heart failure
constitutional     --over  
co-localized with APP in synaptic terminals and with SLC8A2, SLC8A3, are up-regulated in nerve terminals containing APP, in cerebral cortex affected by Alzheimer disease
Susceptibility to prolongation of the electrocardiographic QT interval
Variant & Polymorphism SNP
  • association between a SNP, rs13017846 with prolongation of the electrocardiographic QT interval
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyacquired 
    potential therapeutic targets for reducing the bystander damage that often results from microglia activation in the damaged CNS
    ANIMAL & CELL MODELS
  • severe circulation defects and defective placentation in homozygous Ncx1(N87K4) mutant embryos