| First Author | Parry DA | Year | 2013 |
| Journal | Am J Hum Genet | Volume | 92 |
| Issue | 2 | Pages | 307-12 |
| PubMed ID | 23375655 | Mgi Jnum | J:202571 |
| Mgi Id | MGI:5520028 | Doi | 10.1016/j.ajhg.2013.01.003 |
| Citation | Parry DA, et al. (2013) Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. Am J Hum Genet 92(2):307-12 |
| abstractText | A combination of autozygosity mapping and exome sequencing identified a null mutation in SLC24A4 in a family with hypomineralized amelogenesis imperfect a (AI), a condition in which tooth enamel formation fails. SLC24A4 encodes a calcium transporter upregulated in ameloblasts during the maturation stage of amelogenesis. Screening of further AI families identified a missense mutation in the ion-binding site of SLC24A4 expected to severely diminish or abolish the ion transport function of the protein. Furthermore, examination of previously generated Slc24a4 null mice identified a severe defect in tooth enamel that reflects impaired amelogenesis. These findings support a key role for SLC24A4 in calcium transport during enamel formation. |
