AMTN: Amelotin Gene
Enamel Matrix Protein Gene
Gene Information Card
| Symbol | AMTN |
|---|---|
| Full Name | Amelotin |
| Gene Type | Protein coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 401138 ncbi.nlm.nih.gov/gene/401138 |
| Ensembl ID | ENSG00000187678 |
| UniProt ID | Q6UXH1 |
| OMIM ID | 610912 |
| HGNC ID | 31952 |
| Aliases | UNQ689, UNQ689/PRO1334 |
Description
The AMTN gene encodes amelotin, a secreted protein that is specifically expressed in the enamel organ during tooth development. Amelotin is involved in the formation and mineralization of dental enamel, particularly in the maturation stage. It is a component of the enamel matrix and plays a role in the adhesion of ameloblasts to the enamel surface.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amelogenesis Imperfecta | Mutations in AMTN disrupt enamel matrix formation, leading to defective enamel mineralization. | OMIM: 610912 |
| Dental Caries Susceptibility | Variants in AMTN may influence enamel integrity and susceptibility to caries. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary Gland | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Thyroid | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HPAF-II | 0.0 | No expression |
| U-2 OS | 0.0 | No expression |
| MCF7 | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Alters start codon, likely loss of function |
| c.208C>T | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to truncated or absent amelotin protein impair enamel matrix formation, causing amelogenesis imperfecta.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005576 extracellular region | • GO:0031214 biomineral tissue development |
| • GO:0042475 odontogenesis of dentin-containing tooth | • GO:0005198 structural molecule activity |
Pathways
• Enamel formation
Protein Summary
Amelotin is a 209-amino acid secreted protein with a signal peptide. It is rich in proline and glutamine, and contains a conserved domain of unknown function (DUF). The protein is localized to the enamel matrix and is thought to facilitate the adhesion of ameloblasts to the enamel surface during maturation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMTN Knockout HEK293 Cell Line | EDJ-KQ11622 | Human | 401138 | Details Get a Quote |
| AMTN Knockout HeLa Cell Line | EDJ-KQ39970 | Human | 401138 | Details Get a Quote |
| AMTN Knockout A-549 Cell Line | EDJ-KQ68753 | Human | 401138 | Details Get a Quote |
| AMTN Knockout HCT 116 Cell Line | EDJ-KQ77120 | Human | 401138 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
