Biology:SLC24A4

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A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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]

References

  1. ↑ "Entrez Gene: SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4". https://www.ncbi.nlm.nih.gov/gene?cmd=Retrieve&dopt=full_report&list_uids=123041. 
  2. ↑ "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. doi:10.1016/j.ajhg.2013.01.003. PMID 23375655. 
  3. ↑ "STIM1 and SLC24A4 Are Critical for Enamel Maturation". Journal of Dental Research 93 (7 Suppl): 94S-100S. July 2014. doi:10.1177/0022034514527971. PMID 24621671. 
  4. ↑ "Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation". Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 119 (2): e77-81. February 2015. doi:10.1016/j.oooo.2014.09.003. PMID 25442250. 




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