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Sodium/potassium/calcium exchanger 4
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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]
Clinical effects
[edit]Mutations in SLC24A4 cause amelogenesis imperfecta.[5][6][7]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000140090 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4".
- ^ 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.
- ^ 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.
- ^ 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.