Sodium/potassium/calcium exchanger 4

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SLC24A4
Identifiers
AliasesSLC24A4, AI2A5, NCKX4, SHEP6, SLC24A2, solute carrier family 24 member 4
External IDsMGI: 2447362 HomoloGene: 17798 GeneCards: SLC24A4
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for SLC24A4
Genomic location for SLC24A4
Band14q32.12Start92,322,581 bp[1]
End92,501,483 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_153646
NM_153647
NM_153648

NM_172152
NM_001362345

RefSeq (protein)

NP_705932
NP_705933
NP_705934

NP_742164
NP_001349274

Location (UCSC)Chr 14: 92.32 – 92.5 MbChr 12: 102.13 – 102.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium/potassium/calcium exchanger 4 also known as solute carrier family 24 member 4 is a protein that in humans is encoded by the SLC24A4 gene.[5]

Clinical effects[edit]

Mutations in SLC24A4 cause amelogenesis imperfecta.[6][7][8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000140090 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041771 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ "Entrez Gene: SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4".
  6. ^ Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, et al. (February 2013). "Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta". American Journal of Human Genetics. 92 (2): 307–12. doi:10.1016/j.ajhg.2013.01.003. PMC 3567274. PMID 23375655.
  7. ^ Wang S, Choi M, Richardson AS, Reid BM, Seymen F, Yildirim M, et al. (July 2014). "STIM1 and SLC24A4 Are Critical for Enamel Maturation". Journal of Dental Research. 93 (7 Suppl): 94S–100S. doi:10.1177/0022034514527971. PMC 4107542. PMID 24621671.
  8. ^ Herzog CR, Reid BM, Seymen F, Koruyucu M, Tuna EB, Simmer JP, Hu JC (February 2015). "Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation". Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 119 (2): e77–81. doi:10.1016/j.oooo.2014.09.003. PMC 4291293. PMID 25442250.