Sodium/potassium/calcium exchanger 4 explained

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.^[1]

Clinical effects

Mutations in SLC24A4 cause amelogenesis imperfecta.^{[2] [3] [4]}

Notes and References

1. Web site: 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 . 6 . 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 . February 2013 . 23375655 . 10.1016/j.ajhg.2013.01.003 . 3567274.
3. Wang S, Choi M, Richardson AS, Reid BM, Seymen F, Yildirim M, Tuna E, Gençay K, Simmer JP, Hu JC . 6 . STIM1 and SLC24A4 Are Critical for Enamel Maturation . Journal of Dental Research . 93 . 7 Suppl . 94S–100S . July 2014 . 24621671 . 10.1177/0022034514527971 . 4107542.
4. Herzog CR, Reid BM, Seymen F, Koruyucu M, Tuna EB, Simmer JP, Hu JC . Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation . Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology . 119 . 2 . e77-81 . February 2015 . 25442250 . 4291293 . 10.1016/j.oooo.2014.09.003 .