| Entrez Gene ID | 10117 |
|---|---|
| Official Gene Symbol | ENAM (GeneCards) |
| Full name | enamelin |
| Location | 4q13.3 |
| Other ids | Vega : OTTHUMG00000129914 MIM : 606585 HGNC : HGNC:3344 Ensembl : ENSG00000132464 |
| Other names | ADAI, AI1C, AIH2 |
| Summary | Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1088 | 10117 | ENAM | 4 | 71508318 | 71508318 | Human Skin Fibroblasts | HiSeq 2500 |