Amelogenin
| amelogenin, X-linked | |
|---|---|
| Identifiers | |
| Symbol | AMELX |
| Alt. symbols | AMG, AIH1 |
| Entrez | 265 |
| HUGO | 461 |
| OMIM | 300391 |
| RefSeq | NM_001142 |
| UniProt | Q99217 |
| Other data | |
| Locus | Chr. X p22.3-p22.1 |
| amelogenin, Y-linked | |
|---|---|
| Identifiers | |
| Symbol | AMELY |
| Alt. symbols | AMGL |
| Entrez | 266 |
| HUGO | 462 |
| OMIM | 410000 |
| RefSeq | NM_001143 |
| UniProt | Q99218 |
| Other data | |
| Locus | Chr. Y p11 |
Amelogenin is the name for a series of closely related proteins involved in amelogenesis, the development of enamel. They are a type of extracellular matrix (ECM) protein, which, together with ameloblastins, enamelins, and tuftelins direct the mineralization of enamel to form a highly organized matrix of rods, interrod crystal, and protein. Although the precise role of amelogenin(s) in regulating the mineralization process is unknown, it is known that amelogenins are abundant during amelogenesis. Developing human enamel contains about 70% protein, 90% of which are amelogenins.
Amelogenins are believed to be involved in the organizing of enamel rods during tooth development. The latest research indicates that these proteins regulate the initiation and growth of hydroxyapatite crystals during the mineralization of enamel. In addition, amelogenins appear to aid in the development of cementum by directing cementoblasts to the tooth's root surface.
The amelogenin gene has been most widely studied in humans, where it is a single copy gene, located on the X and Y chromosomes at Xp22.1-Xp22.3 and Yp 11.2 [5]. The amelogenin gene’s location on sex chromosomes has implications for variability both between the X chromosome form (AMELX) and the Y chromosome form (AMELY), and between alleles of AMELY among different populations. This is because AMELY exists in the non-recombining region of chromosome Y, effectively isolating it from normal selection pressures. Other sources of amelogenin variation arise from the various isoforms of AMELX obtained from alternative splicing of mRNA transcripts. Specific roles for isoforms have yet to be established. Among other organisms, amelogenin is well conserved among eutherians, and has homologs in monotremes, reptiles and amphibians.
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