SLC24A4

Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
Identifiers
Symbols	SLC24A4 ; AI2A5; NCKX4; SHEP6; SLC24A2
External IDs	OMIM: 609840 HomoloGene: 17798 IUPHAR: 1048 GeneCards: SLC24A4 Gene
Gene ontology Molecular function • calcium, potassium:sodium antiporter activity • symporter activity Cellular component • cytoplasm • plasma membrane • integral component of plasma membrane • membrane Biological process • ion transport • potassium ion transport • cellular calcium ion homeostasis • sensory perception of smell • sodium ion transmembrane transport • response to stimulus • transmembrane transport • calcium ion transmembrane transport • amelogenesis Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	123041	238384
Ensembl	ENSG00000140090	ENSMUSG00000041771
UniProt	Q8NFF2	Q8CGQ8
RefSeq (mRNA)	NM_153646	NM_172152
RefSeq (protein)	NP_705932	NP_742164
Location (UCSC)	Chr 14: 92.32 – 92.5 Mb	Chr 12: 102.13 – 102.27 Mb
PubMed search

Solute Carrier Family 24 (Sodium/Potassium/Calcium Exchanger), 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]

References

1. "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 (Jan 2013). "Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta". Am J Hum Genet. 92 (2): 307–12. doi:10.1016/j.ajhg.2013.01.003. PMID 23375655.
3. Wang S, Choi M, Richardson AS, Reid BM, Seymen F, Yildirim M, Tuna E, Gençay K, Simmer JP, Hu JC (Mar 2014). "STIM1 and SLC24A4 Are Critical for Enamel Maturation". J Dent Res. 93 (7 suppl): 94S–100S. doi:10.1177/0022034514527971. PMID 24621671.