ENAM

Enamelin
Identifiers
Symbols	ENAM ; ADAI; AIH2
External IDs	Template:OMIM5 Template:MGI HomoloGene: 9698
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Enamelin, also known as ENAM, is a human gene.

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]

Further reading

• Hu JC, Yamakoshi Y (2003). "Enamelin and autosomal-dominant amelogenesis imperfecta". Crit. Rev. Oral Biol. Med. 14 (6): 387–98. PMID 14656895.
• 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. doi:10.1016/j.archoralbio.2006.09.014. PMID 17316551.CS1 maint: Multiple names: authors list (link)
• 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. doi:10.1016/j.archoralbio.2006.10.010. PMID 17125728.CS1 maint: Multiple names: authors list (link)
• Ballif BA, Villén J, Beausoleil SA; et al. (2005). "Phosphoproteomic analysis of the developing mouse brain". Mol. Cell Proteomics. 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 14684688.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mårdh CK, Bäckman B, Holmgren G; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. PMID 11076863.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)