AMBN Gene Summary [Human]
This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | AMBN |
| Official Name | ameloblastin [Source:HGNC Symbol;Acc:HGNC:452] |
| Ensembl ID | ENSG00000178522 |
| Bio databases IDs | |
| Aliases | ameloblastin, enamel matrix protein |
| Synonyms | AI1F, Ameloblastin |
| 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 AMBN 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
- extracellular matrix structural constituent conferring compression resistance
- heparin binding domain
- protein binding
- growth factor
- Ameloblastin precursor (Amelin)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- androgenic alopecia
- amelogenesis imperfecta type IF
role in cell
- proliferation
- formation
- adhesion
- expression in
- differentiation
- abnormal morphology
- organization
- attachment
- incorporation in
- polarity
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
- endoplasmic reticulum lumen
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AMBN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- cell adhesion
- odontogenesis of dentin-containing tooth
- regulation of cell proliferation
- biomineral tissue development
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular region
Molecular Function
What the gene product does at the molecular level
- growth factor activity
- protein binding
- structural constituent of tooth enamel