ENAM (Enamelin) Gene
Key Gene in Dental Enamel Formation and Amelogenesis Imperfecta
Gene Information Card
| Symbol | ENAM |
|---|---|
| Full Name | Enamelin |
| Gene Type | Protein coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 10117 ncbi.nlm.nih.gov/gene/10117 |
| Ensembl ID | ENSG00000138674 |
| UniProt ID | Q9NRM1 |
| OMIM ID | 606585 |
| HGNC ID | 3344 |
| Aliases | AIH2, ADAI |
Description
The ENAM gene encodes enamelin, a matrix protein critical for the formation and mineralization of dental enamel. Mutations in ENAM cause autosomal dominant or recessive forms of amelogenesis imperfecta, characterized by hypoplastic enamel.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amelogenesis Imperfecta, Type IC (AI1C) | Loss-of-function mutations in ENAM reduce enamel matrix protein, leading to thin or absent enamel | ClinVar, OMIM |
| Amelogenesis Imperfecta, Type IIA (AI2A) | Dominant-negative or haploinsufficiency effects disrupt enamel rod structure | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 0.0 | Not detected |
| Tooth (enamel organ) | High (specific) | Tissue-specific expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HPAF-II | 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.534G>A (p.Trp178*) | Nonsense | Rare | Premature truncation, loss of function |
| c.208C>T (p.Arg70*) | Nonsense | Rare | Loss of function, associated with AI |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated enamelin protein, causing hypoplastic amelogenesis imperfecta.
Gain of Function (GOF)
Not reported for ENAM.
Dominant Negative (DN)
Missense mutations may interfere with enamelin multimerization, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • biomineralization |
| • odontogenesis of dentin-containing tooth |
Pathways
• Amelogenesis
• Extracellular matrix organization
Protein Summary
Enamelin is a secreted extracellular matrix protein predominantly expressed in ameloblasts during tooth development. It facilitates the nucleation and growth of hydroxyapatite crystals, essential for enamel hardness and structure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENAM Knockout HEK293 Cell Line | EDJ-KQ6903 | Human | 10117 | Details Get a Quote |
| ENAM Knockout HeLa Cell Line | EDJ-KQ55322 | Human | 10117 | Details Get a Quote |
| ENAM Knockout A-549 Cell Line | EDJ-KQ63805 | Human | 10117 | Details Get a Quote |
| ENAM Knockout HCT 116 Cell Line | EDJ-KQ72263 | Human | 10117 | Details Get a Quote |
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