Sodium/potassium/calcium exchanger 4

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.[4]

SLC24A4
Identifiers
AliasesSLC24A4, AI2A5, NCKX4, SHEP6, SLC24A2, solute carrier family 24 member 4
External IDsOMIM: 609840; MGI: 2447362; HomoloGene: 17798; GeneCards: SLC24A4; OMA:SLC24A4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_153646
NM_153647
NM_153648
NM_001378620

NM_172152
NM_001362345

RefSeq (protein)

NP_705932
NP_705933
NP_705934
NP_001365549

NP_742164
NP_001349274

Location (UCSC)Chr 14: 92.32 – 92.5 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical effects

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Mutations in SLC24A4 cause amelogenesis imperfecta.[5][6][7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000140090Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Entrez Gene: SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4".
  5. ^ 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.
  6. ^ 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.
  7. ^ 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.