SLC24A4

SLC24A4
Identifiers
Aliases	SLC24A4, AI2A5, NCKX4, SHEP6, SLC24A2, solute carrier family 24 member 4
External IDs	MGI: 2447362 HomoloGene: 17798 GeneCards: SLC24A4
Gene ontology Molecular function • calcium channel activity • sodium ion binding • calcium ion binding • potassium ion binding • symporter activity • antiporter activity • calcium, potassium:sodium antiporter activity Cellular component • integral component of membrane • membrane • integral component of plasma membrane • plasma membrane • cytoplasm Biological process • calcium ion transport • sensory perception of smell • sodium ion transport • sodium ion transmembrane transport • calcium ion transmembrane transport • amelogenesis • response to stimulus • transport • ion transport • cellular calcium ion homeostasis • potassium ion transport • transmembrane transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	123041	238384
Ensembl	ENSG00000140090	ENSMUSG00000041771
UniProt	Q8NFF2	Q8CGQ8
RefSeq (mRNA)	NM_153646 NM_153647 NM_153648	NM_172152
RefSeq (protein)	NP_705932.2 NP_705933.2 NP_705934.1	NP_742164.1
Location (UCSC)	Chr 14: 92.32 – 92.5 Mb	Chr 12: 102.13 – 102.27 Mb
PubMed search	[1]	[2]
Wikidata

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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.^[3]

Clinical effects

Mutations in SLC24A4 cause amelogenesis imperfecta .^[4][5][6]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. "Entrez Gene: SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4".
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. PMID 23375655.
5. 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. PMID 24621671.
6. 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.