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

Stable Identifier
R-HSA-5626270
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
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
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
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
calcium, potassium:sodium antiporter activity of SLC24A4 mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
amelogenesis imperfecta 2187
Authored
Reviewed
Created
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