ENAM

  • OMIM: 606585
  • UniProt: Q9NRM1
  • MGI: 1333772

Enamelin ( ENAM ), is a protein that is formed in the teeth of higher mammals, plays a role in the mineralization of dental enamel structure. Mutations in the ENAM gene in humans can lead to a broken enamelin protein, which in turn is the cause of the metabolic disease amelogenesis imperfecta.

The enamel is a high mineral content fabric consisting of 85% hydroxyapatite unusually large. This unusual structure is probably caused by the ameloblasts. They interact this with the so-called organic matrix molecules, including enamelin, amelogenin ( AMELX; MIM 300391 ), ameloblastin ( AMBN; MIM 601259 ), tuftelin ( TUFT1; MIM 600 087 ), Dentine sialophosphoprotein ( DSPP; MIM 125485 ) and a number of other enzymes. Enamelin is the largest protein in the enamel matrix of developing teeth and makes up about 5% of total protein matrix of enamel.

Further Reading

  • Hu JC, Yamakoshi Y: enamelin and autosomal dominant amelogenesis imperfecta. in: Crit. Rev. Oral Biol Med vol. 14.6 pg. 387-98 (2003) PMID 14656895
  • Gutierrez, SJ, Chaves M, Torres DM, Briceño I: Identification of a novel mutation in the gene enamalin in a family with autosomal dominant amelogenesis imperfecta. in: Arch Oral Biol vol. 52.5 pg. 503-6 (2007) PMID 17316551
  • Pavlic A, Petelin M, Battelino T: Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185 - 13186insAG and 8344delG. in: Arch Oral Biol vol. 52.3 pg. 209-17 (2007) PMID 17125728
  • Ballif BA, Villén J, Beausoleil SA, et al. Phosphoproteomic analysis of The Developing mouse brain. in: Mol Cell Proteomics vol. 3.11 pg. 1093-101 (2005) PMID 15345747
  • Hart TC, Hart PS, Gorry MC, et al.: Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and Localised enamel defects. In: J. Med Genet. vol. 40.12 pg. 900-6 (2004) PMID 14684688
  • Hart PS, Michalec MD, Seow WK, et al.: Identification of the enamelin ( g.8344delG ) mutation in a new kindred and presentation of a Standardized ENAM nomenclature. in: Arch Oral Biol vol. 48.8 pg. 589-96 (2003) PMID 12828988
  • Strausberg RL, Feingold EA, Grouse LH, et al.: Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. In: Proc. Natl. Acad. Sci. U.S.A. vol. 99.26 pg. 16899-903 (2003) PMID 12477932
  • Kida M, Ariga T, Shirakawa T, et al.: Autosomal - dominant hypoplastic form of amelogenesis imperfecta enamelin gene mutation at Caused by exon- intron boundary at the. : J Dent Res vol. 81.11 pg. 738-42 (2002) PMID 12407086
  • Mårdh CK, Bäckman B, Holmgren G, et al.: A nonsense mutation in the enamelin gene Causes local hypoplastic autosomal dominant amelogenesis imperfecta ( AIH2 ). in: Hum. Mol Genet. vol. 11.9 pg. 1069-74 (2002) PMID 11978766
  • Rajpar MH, Harley K, Laing C, et al.: Mutation of the gene encoding the enamel - specific protein, enamelin, Causes autosomal dominant amelogenesis imperfecta. in: Hum. Mol Genet. vol. 10.16 pg. 1673-7 (2001) PMID 11487571
  • Hartley JL, Temple GF, Brasch MA: DNA cloning using in vitro site- specific recombination. In: Genome Res vol. 10.11 pg. 1788-95 (2001) PMID 11076863
  • Dong J, Gu TT, Simmons D, MacDougall M: enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. in: Eur J Oral Sci. vol. 108.5 pg. 353-8 (2001) PMID 11037750
  • Hu CC, Hart TC, Dupont BR, et al.: Cloning human enamelin cDNA, chromosomal localization, and analysis of expression falling on tooth development. In: J. Dent. Res vol. 79.4 pg. 912-9 (2000) PMID 10831092
  • Forsman K, Lind L, Bäckman B, et al.: Localization of a gene for autosomal dominant amelogenesis imperfecta ( ADAI ) to chromosome 4q. in: Hum. Mol Genet. vol. 3.9 pg. 1621-5 (1995 ) PMID 7833920
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