AMTN
amelotin
Summary
The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28674149 | 4:71,384,488 | C/T | — | benign |
| rs374431307 | 4:71,384,505 | C/T | — | likely benign |
| rs35286445 | 4:71,384,537 | C/T | — | benign |
| rs1040295997 | 4:71,388,490 | G/A | — | uncertain significance |
| rs34803339 | 4:71,389,594 | T/C | — | benign |
| rs377035574 | 4:71,390,582 | C/T | — | benign |
| rs773319021 | 4:71,390,628 | C/A | — | uncertain significance |
| rs771229063 | 4:71,390,635 | T/G | — | uncertain significance |
| rs146006787 | 4:71,390,647 | G/A | — | likely benign |
| rs767240686 | 4:71,390,672 | C/A | — | likely benign |
| rs376548671 | 4:71,390,676 | C/T | — | uncertain significance |
| rs773335972 | 4:71,396,861 | G/A | — | uncertain significance |
| rs61755875 | 4:71,396,928 | G/T | — | benign |
| rs768379840 | 4:71,396,960 | G/T | — | uncertain significance |
| rs1736217161 | 4:71,396,976 | G/A | — | uncertain significance |
| rs766499849 | 4:71,396,979 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.