| 1315614 | ENAM | enamelin | 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] | 4 | 70628744 | 70646824 | Human | 165 | symbol , COSMIC , name , description , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 629021600 | ENAM-AS1 | ENAM and JCHAIN antisense RNA 1 | | | | | Human | | symbol , GTEx , COSMIC , name , Human Proteome Map | gene, ncrna |
| 16571948 | ENAM-AS1 | ENAM and JCHAIN antisense RNA 1 | | | | | Human | | symbol , COSMIC , name , Human Proteome Map | gene, lncrna |
| 1604908 | AMTN | amelotin | The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enam amel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008] | 4 | 70518569 | 70532743 | Human | 50 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 736409 | AMBN | ameloblastin | 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 clus ter on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011] | 4 | 70592256 | 70607288 | Human | 89 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1318675 | MMP20 | matrix metallopeptidase 20 | Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secrete d as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011] | 11 | 102576832 | 102625332 | Human | 71 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1604986 | ODAPH | odontogenesis associated phosphoprotein | Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during a melogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012] | 4 | 75556066 | 75565893 | Human | 28 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1353266 | KLK4 | kallikrein related peptidase 4 | Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members l ocated in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014] | 19 | 50906351 | 50911395 | Human | 82 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 735379 | AMELX | amelogenin X-linked | 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 mu ltiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] | X | 11293413 | 11309588 | Human | 89 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1343944 | AMELY | amelogenin Y-linked | This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008] | Y | 6865918 | 6911752 | Human | 16 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1603342 | FAM83H | family with sequence similarity 83 member H | The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010] | 8 | 143723933 | 143733779 | Human | 126 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1314247 | SLC24A4 | solute carrier family 24 member 4 | This gene encodes a sodium/potassium/calcium exchange protein. The encoded antiporter transports one calcium and one potassium ion in exchange for four sodium ions and has been implicated in amelogenesis and enamel maturation. Certain variants in this gene have been associated with skin, hair, and eye pigmentation, while other variants have been identified in people with hypomaturation-type amelogenesis imperfecta. [provided by RefSeq, Nov 2023] | 14 | 92322581 | 92501481 | Human | 148 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1352585 | STATH | statherin | Predicted to enable extracellular matrix constituent, lubricant activity and hydroxyapatite binding activity. Predicted to be a structural constituent of tooth enamel. Predicted to be involved in negative regulation of bone mineralization; ossification; and sali va secretion. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025] | 4 | 69995966 | 70002570 | Human | 34 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1321243 | TUFT1 | tuftelin 1 | Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth f actor mediated neuronal differentiation. [provided by RefSeq, Aug 2014] | 1 | 151540309 | 151583583 | Human | 138 | description | gene, protein-coding, VALIDATED [RefSeq] |
