Pathway
Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
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.
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Genetic variants in SLC24A4 define the skin/hair/eye pigmentation variation locus 6 (SHEP6; MIM:210750). In a genomewide association scan of thousands of Icelanders and Dutch, Sulem et al. found a strong association between the T allele of a SNP in the SLC24A4 gene and blond versus brown hair and blue versus green eyes.
What the reference databases state
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1 statement
1 statement · 1 reference database · Subject: Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) · Sources: Reactome
- SLC24A4 participates in Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)ProteinReactome R-HSA-5619055Inferred only