Reaction: Defective SLC24A4 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+
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).
Reaction - small molecule participants:
K+ [cytosol]
Ca2+ [cytosol]
Na+ [extracellular region]
Reactome.org reaction link: R-HSA-5626270
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Reaction input - small molecules:
potassium(1+)
calcium(2+)
sodium(1+)
Reaction output - small molecules:
Reactome.org link: R-HSA-5626270