Enamelin

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ENAM
Properties of human protein
Mass / length primary structure 1103 amino acids
Identifier
Gene names ENAM  ; ADAI; AIH2
External IDs
Occurrence
Homology family Enamelin
Parent taxon Higher mammals
Orthologue
human mouse
Entrez 10117 13801
Ensemble ENSG00000132464 ENSMUSG00000029286
UniProt Q9NRM1 Q548P8
Refseq (mRNA) NM_031889 XM_976899
Refseq (protein) NP_114095 XP_981993
Gene locus Chr 4: 71.71 - 71.73 Mb Chr 5: 89.56 - 89.58 Mb
PubMed search 10117 13801

Enamelin (ENAM) , is a protein that is produced in the teeth of higher mammals and plays a role in the mineralization and structuring of tooth enamel . Mutations in the ENAM gene can lead to a defective enamelin protein in humans, which in turn is the cause of the metabolic disease amelogenesis imperfecta .

The enamel is a hochmineralisiertes tissue to 85% of unusually large hydroxyapatite exists. This unusual structure is probably caused by the ameloblasts . They interact with the so-called organic matrix molecules, namely enamelin, amelogenin (AMELX; MIM 300391), ameloblastin (AMBN; MIM 601259), tuftelin (TUFT1; MIM 600087), 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 approximately 5% of the total protein matrix of tooth enamel.

further reading

  • JC Hu, Y. Yamakoshi: Enamelin and autosomal dominant amelogenesis imperfecta. In: Crit. Rev. Oral Biol. Med. Vol. 14.6, pp. 387-398 (2003) PMID 14656895
  • SJ Gutierrez, M. Chaves, DM Torres, I. Briceño: Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta. In: Arch. Oral Biol. Vol. 52,5, 2007, pp. 503-506. PMID 17316551
  • A. Pavlic, M. Petelin, T. Battelino: Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. In: Arch. Oral Biol. Vol. 52,3, 2007, pp. 209-217. PMID 17125728
  • BA Ballif, J. Villén, SA Beausoleil et al .: Phosphoproteomic analysis of the developing mouse brain. In: Mol. Cell Proteomics. vol. 3,11, 2005, pp. 1093-1101. PMID 15345747
  • TC Hart, PS Hart, MC Gorry et al: Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localized enamel defects. In: J. Med. Genet. vol. 40,12, 2004, pp. 900-906. PMID 14684688
  • PS Hart, MD Michalec, WK Seow 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, 2003, pp. 589-596. PMID 12828988
  • RL Strausberg, EA Feingold, LH Grouse et al .: Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. In: Proc. Natl. Acad. Sci. USA vol. 99, 26, 2003, pp. 16899-16903. PMID 12477932
  • M. Kida, T. Ariga, T. Shirakawa et al .: Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. In: J Dent Res . vol. 81,11, 2002, pp. 738-742 (2002) PMID 12407086
  • CK Mårdh, B. Bäckman, G. Holmgren et al: A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). In: Hum. Mol. Genet. vol. 11,9, 2002, pp. 1069-1074. PMID 11978766
  • MH Rajpar, K. Harley, C. Laing et al .: Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. In: Hum. Mol. Genet. vol. 10.16, 2001, pp. 1673-1677. PMID 11487571
  • JL Hartley, GF Temple, MA Brasch: DNA cloning using in vitro site-specific recombination. In: Genome Res. Vol. 10, 11, 2001, pp. 1788-1795. PMID 11076863
  • J. Dong, TT Gu, D. Simmons, M. MacDougall: Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. In: Eur. J. Oral Sci. vol. 108,5, 2001, pp. 353-358. PMID 11037750
  • CC Hu, TC Hart, BR Dupont et al: Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development. In: J. Dent. Res. Vol. 79,4, 2000, pp. 912-919. PMID 10831092
  • K. Forsman, L. Lind, B. Bäckman et al .: Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q. In: Hum. Mol. Genet. vol. 3.9, 1995, pp. 1621-1625. PMID 7833920

See also

Individual evidence

  1. ↑ a b Entrez Gene: ENAM enamelin. Retrieved December 23, 2010 .
  2. ↑ UniProt entry