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Open Access Articles- Top Results for SLC24A4

SLC24A4

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Identifiers
SymbolsSLC24A4 ; AI2A5; NCKX4; SHEP6; SLC24A2
External IDsOMIM609840 HomoloGene17798 IUPHAR: 1048 GeneCards: SLC24A4 Gene
Orthologs
SpeciesHumanMouse
Entrez123041238384
EnsemblENSG00000140090ENSMUSG00000041771
UniProtQ8NFF2Q8CGQ8
RefSeq (mRNA)NM_153646NM_172152
RefSeq (protein)NP_705932NP_742164
Location (UCSC)Chr 14:
92.32 – 92.5 Mb
Chr 12:
102.13 – 102.27 Mb
PubMed search[1][2]

Solute Carrier Family 24 (Sodium/Potassium/Calcium Exchanger), member 4 is a protein that in humans is encoded by the SLC24A4 gene.[1]


Clinical effects

Mutations in SLC24A4 cause amelogenesis imperfecta .[2][3]

References

  1. ^ "Entrez Gene: SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4". 
  2. ^ Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, Anwari BM, Rashid Y, Zhao H, Johnson CA, Inglehearn CF, Mighell AJ (Jan 2013). "Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta". Am J Hum Genet. 92 (2): 307–12. PMID 23375655. doi:10.1016/j.ajhg.2013.01.003. 
  3. ^ Wang S, Choi M, Richardson AS, Reid BM, Seymen F, Yildirim M, Tuna E, Gençay K, Simmer JP, Hu JC (Mar 2014). "STIM1 and SLC24A4 Are Critical for Enamel Maturation". J Dent Res. 93 (7 suppl): 94S–100S. PMID 24621671. doi:10.1177/0022034514527971.