ENAM
| ENAM | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Aliases | ENAM, ADAI, AI1C, AIH2, enamelin | ||||||
| External IDs | MGI: 1333772 HomoloGene: 9698 GeneCards: ENAM | ||||||
| Orthologs | |||||||
| Species | Human | Mouse | |||||
| Entrez | |||||||
| Ensembl | |||||||
| UniProt | |||||||
| RefSeq (mRNA) | |||||||
| RefSeq (protein) | |||||||
| Location (UCSC) | Chr 4: 70.63 – 70.69 Mb | Chr 5: 88.49 – 88.51 Mb | |||||
| PubMed search | [1] | [2] | |||||
| Wikidata | |||||||
| |||||||
| Enamelin | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbol | Enamelin | ||||||||
| Pfam | PF15362 | ||||||||
| |||||||||
Enamelin is a protein that in humans is encoded by the ENAM gene.[3][4]
Dental enamel is a highly mineralized tissue with 85% of its volume occupied by unusually large, highly organized, hydroxyapatite crystals. This highly organized and unusual structure is thought to be rigorously controlled in ameloblasts through the interaction of a number of organic matrix molecules that include enamelin, amelogenin (AMELX; MIM 300391), ameloblastin (AMBN; MIM 601259), tuftelin (TUFT1; MIM 600087), dentine sialophosphoprotein (DSPP; MIM 125485), and a variety of enzymes. Enamelin is the largest protein in the enamel matrix of developing teeth and comprises approximately 5% of total enamel matrix protein.[supplied by OMIM][4]
Mutations in the ENAM gene can give rise to autosomal dominant Amelogenesis imperfecta,[3][5] indicating a role in Amelogenesis.
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- 1 2 Mardh CK, Backman B, Holmgren G, Hu JC, Simmer JP, Forsman-Semb K (Apr 2002). "A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)". Hum Mol Genet. 11 (9): 1069–74. PMID 11978766. doi:10.1093/hmg/11.9.1069.
- 1 2 "Entrez Gene: ENAM enamelin".
- ↑ Hu, J. C.; Yamakoshi, Y. (2003). "Enamelin and autosomal-dominant amelogenesis imperfecta". Critical Reviews in Oral Biology and Medicine. 14 (6): 387–398. PMID 14656895. doi:10.1177/154411130301400602.
Further reading
- Gutierrez SJ, Chaves M, Torres DM, Briceño I (2007). "Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta.". Arch. Oral Biol. 52 (5): 503–6. PMID 17316551. doi:10.1016/j.archoralbio.2006.09.014.
- Pavlic A, Petelin M, Battelino T (2007). "Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.". Arch. Oral Biol. 52 (3): 209–17. PMID 17125728. doi:10.1016/j.archoralbio.2006.10.010.
- Ballif BA, n J, Villé Beausoleil SA, et al. (2005). "Phosphoproteomic analysis of the developing mouse brain.". Mol. Cell Proteomics. 3 (11): 1093–101. PMID 15345747. doi:10.1074/mcp.M400085-MCP200.
- Hart TC, Hart PS, Gorry MC, et al. (2004). "Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects". J. Med. Genet. 40 (12): 900–6. PMC 1735344
. PMID 14684688. doi:10.1136/jmg.40.12.900. - Hart PS, Michalec MD, Seow WK, et al. (2003). "Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature". Arch. Oral Biol. 48 (8): 589–96. PMID 12828988. doi:10.1016/S0003-9969(03)00114-6.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- Kida M, Ariga T, Shirakawa T, et al. (2002). "Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary". J. Dent. Res. 81 (11): 738–42. PMID 12407086. doi:10.1177/154405910208101103.
- Rajpar MH, Harley K, Laing C, et al. (2001). "Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta". Hum. Mol. Genet. 10 (16): 1673–7. PMID 11487571. doi:10.1093/hmg/10.16.1673.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. PMC 310948 . PMID 11076863. doi:10.1101/gr.143000.
- Dong J, Gu TT, Simmons D, MacDougall M (2001). "Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus". Eur. J. Oral Sci. 108 (5): 353–8. PMID 11037750. doi:10.1034/j.1600-0722.2000.108005353.x.
- Hu CC, Hart TC, Dupont BR, et al. (2000). "Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development". J. Dent. Res. 79 (4): 912–9. PMID 10831092. doi:10.1177/00220345000790040501.
- Forsman K, Lind L, Bäckman B, et al. (1995). "Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q". Hum. Mol. Genet. 3 (9): 1621–5. PMID 7833920. doi:10.1093/hmg/3.9.1621.
External links
- ENAM human gene location in the UCSC Genome Browser.
- ENAM human gene details in the UCSC Genome Browser.
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