Defective SLC24A4 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+

Stable Identifier
R-HSA-5626270
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol, extracellular region, plasma membrane
ReviewStatus
5/5
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Defective SLC24A4 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+
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The five members of the NCKX (SLC24) family are all able to exchange one Ca2+ and one K+ for four Na+. SLC24A4 encodes an exchanger protein NCKX4 which may play a role in calcium transport during amelogenesis (the process of formation of tooth enamel). SLC24A4 is upregulated in ameloblasts during the maturation stage of amelogenesis. Defects in SLC24A4 can cause hypomineralised amelogenesis imperfecta (AI), an autosomal recessive disorder in which tooth enamel formation fails. Screening of AI families identified mutations which severely diminish or abolish transport function of SLC24A4. These mutations are R339*, S499C and A146V (Parry et al. 2013, Wang et al. 2014).
Literature References
PubMed ID Title Journal Year
23375655 Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta

Parry, DA, Poulter, JA, Logan, CV, Brookes, SJ, Jafri, H, Ferguson, CH, Anwari, BM, Rashid, Y, Zhao, H, Johnson, CA, Inglehearn, CF, Mighell, AJ

Am. J. Hum. Genet. 2013
24621671 STIM1 and SLC24A4 Are Critical for Enamel Maturation

Wang, S, Choi, M, Richardson, AS, Reid, BM, Seymen, F, Yildirim, M, Tuna, E, Gençay, K, Simmer, JP, Hu, JC

J. Dent. Res. 2014
Participants
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as an event of
Catalyst Activity

calcium, potassium:sodium antiporter activity of SLC24A4 mutants [plasma membrane]

Physical Entity
SLC24A4 mutants [plasma membrane] (Homo sapiens)
Activity
calcium, potassium:sodium antiporter activity (GO:0008273)
Normal reaction
SLC24A1-4 exchange extracellular 4Na+ for cytosolic Ca2+, K+ (Homo sapiens)
Functional status

Loss of function of SLC24A4 mutants [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
amelogenesis imperfecta DOID:2187
Cross References
Mondo
Authored
Jassal, B  (2014-10-09)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-10-09)
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