Sodium/potassium/calcium exchanger 4

SLC24A4
Identifiers
Aliases	SLC24A4, AI2A5, NCKX4, SHEP6, SLC24A2, solute carrier family 24 member 4
External IDs	OMIM: 609840; MGI: 2447362; HomoloGene: 17798; GeneCards: SLC24A4; OMA:SLC24A4 - orthologs
Gene location (Human)
Chr.	Chromosome 14 (human)
End	92,501,481 bp
RNA expression pattern
	Top expressed in
	monocyte; ; primary visual cortex; ; middle temporal gyrus; ; sural nerve; ; Brodmann area 23; ; blood; ; granulocyte; ; buccal mucosa cell; ; gonad; ; Pons;
	n/a
	More reference expression data
	n/a
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; ion transport; cellular calcium ion homeostasis; potassium ion transport; transmembrane transport; potassium ion transmembrane transport; anion transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	123041
	238384
	ENSG00000140090
	ENSMUSG00000041771
	Q8NFF2
	Q8CGQ8
	NM_153646; NM_153647; NM_153648; NM_001378620
	NM_172152; NM_001362345
	NP_705932; NP_705933; NP_705934; NP_001365549
	NP_742164; NP_001349274
	Wikidata
View/Edit Human	View/Edit Mouse

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

Mutations in SLC24A4 cause amelogenesis imperfecta.^[5]^[6]^[7]

References

^ ^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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000140090 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-4] "Entrez Gene: SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4".

[pmid23375655-5] 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.

[pmid24621671-6] 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.

[7] 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.

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