AMELX: Amelogenin X-Linked Gene
Key regulator of enamel formation and mineralization
Gene Information Card
| Symbol | AMELX |
|---|---|
| Full Name | Amelogenin, X-Linked |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 265 ncbi.nlm.nih.gov/gene/265 |
| Ensembl ID | ENSG00000125319 |
| UniProt ID | Q99217 |
| OMIM ID | 300391 |
| HGNC ID | 461 |
| Aliases | AMG, AIH1, AI1E, AMELX_HUMAN |
Description
AMELX encodes amelogenin, the predominant extracellular matrix protein in developing enamel. It is critical for enamel biomineralization, guiding hydroxyapatite crystal growth and organization. Mutations in AMELX cause X-linked amelogenesis imperfecta, characterized by defective enamel formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amelogenesis Imperfecta, Type IE (X-linked) | Loss-of-function mutations disrupt enamel matrix protein, leading to hypoplastic or hypomineralized enamel. | ClinVar, OMIM |
| Amelogenesis Imperfecta, Hypomaturation Type | Missense mutations alter protein folding and secretion, impairing enamel maturation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Tooth (enamel organ) | High (specific) | High expression in ameloblasts |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Ameloblast lineage cells | High | Primary enamel-forming cells |
| HEK293 | 0.0 | No endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208C>T (p.Arg70Ter) | Nonsense | Rare | Premature truncation, loss of function |
| c.47G>A (p.Trp16Ter) | Nonsense | Rare | Loss of function, severe enamel defects |
| c.152C>T (p.Pro51Leu) | Missense | Rare | Altered protein structure, hypomaturation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent amelogenin protein.
Gain of Function (GOF)
Not reported for AMELX.
Dominant Negative (DN)
Missense mutations may interfere with wild-type amelogenin function in heterozygous females.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005576 extracellular region | • GO:0031214 biomineral tissue development |
| • GO:0042475 odontogenesis of dentin-containing tooth | • GO:0005509 calcium ion binding |
| • GO:0030282 bone mineralization |
Pathways
• Enamel formation (Reactome: R-HSA-1474244)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
Protein Summary
Amelogenin is a 191-amino acid secreted protein that self-assembles into nanospheres, regulating enamel crystal growth. It is cleaved by proteases during maturation, facilitating mineral deposition. The protein is rich in proline, glutamine, and leucine, with a conserved hydrophobic N-terminal region.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMELX Knockout HEK293 Cell Line | EDJ-KQ4051 | Human | 265 | Details Get a Quote |
| AMELX Knockout HeLa Cell Line | EDJ-KQ52606 | Human | 265 | Details Get a Quote |
| AMELX Knockout A-549 Cell Line | EDJ-KQ61085 | Human | 265 | Details Get a Quote |
| AMELX Knockout HCT 116 Cell Line | EDJ-KQ69568 | Human | 265 | Details Get a Quote |
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