AMELX Gene Summary [Human]
This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | AMELX |
| Official Name | amelogenin X-linked [Source:HGNC Symbol;Acc:HGNC:461] |
| Ensembl ID | ENSG00000125363 |
| Bio databases IDs | |
| Aliases | amelogenin X-linked, amelogenesis imperfecta 1 |
| Synonyms | AI1E, AIH1, ALGN, AMEL, amelogenin, amelogenin X-linked, amelogenin, X-linked, AMG, AMGL, AMGX, Irap, LRAP, Rgsc888 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AMELX often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- structural constituent of tooth enamel
- protein homodimerization
- calcium ion binding
- metal ion binding
- protein binding
- identical protein binding
- growth factor
- trityrosyl motif
- hydroxyapatite binding
- Amelogenin
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- amelogenesis imperfecta X-linked 1
- hypoplasia
- amelogenesis imperfecta
role in cell
- quantity
- expression in
- proliferation
- adhesion
- differentiation
- hemagglutination
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Cytoplasm
- cell surface
- endoplasmic reticulum lumen
- endocytotic vesicle
- GLUT4 vesicles
- extracellular matrix
- basement membrane
- apical processes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AMELX gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- chondrocyte differentiation
- odontogenesis of dentin-containing tooth
- response to nutrient
- cell adhesion
- response to xenobiotic stimulus
- regulation of cell proliferation
- amelogenesis
- positive regulation of tooth mineralization
- positive regulation of collagen biosynthetic process
- enamel mineralization
- response to calcium ion
- osteoblast differentiation
- epithelial to mesenchymal transition
- tooth mineralization
- biomineral tissue development
Cellular Component
Where in the cell the gene product is active
- endocytic vesicle
- endoplasmic reticulum lumen
- extracellular region
- cell surface
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- hydroxyapatite binding
- growth factor activity
- protein binding
- structural constituent of tooth enamel