Enamelin

Enamelin
ENAM

—
Masse/Länge Primärstruktur 1103 Aminosäuren
Bezeichner
Gen-Namen ENAM; ADAI; AIH2
Externe IDs OMIM: 606585 UniProt: Q9NRM1   MGI: 1333772
Vorkommen
Homologie-Familie Enamelin
Übergeordnetes Taxon Höhere Säugetiere
Orthologe
Mensch Maus
Entrez 10117 13801
Ensembl ENSG00000132464 ENSMUSG00000029286
UniProt Q9NRM1 Q548P8
Refseq (mRNA) NM_031889 XM_976899
Refseq (Protein) NP_114095 XP_981993
Genlocus Chr chr4: 71.71 - 71.73 Mb Chr chr5: 89.56 - 89.58 Mb
PubMed Suche [1] [2]

Enamelin (ENAM), ist ein Protein, das in den Zähnen höherer Säugetiere gebildet wird und eine Rolle bei der Mineralisierung und Strukturierung des Zahnschmelzes spielt. Mutationen im ENAM-Gen können beim Menschen zu einem defekten Enamelin-Protein führen, was wiederum die Ursache für die Stoffwechselkrankheit Amelogenesis imperfecta ist.[1][2]

Der Zahnschmelz ist ein hochmineralisiertes Gewebe, das zu 85% aus ungewöhnlich großen Hydroxylapatitkristallen besteht. Diese ungewöhnliche Struktur wird vermutlich durch die Ameloblasten hervorgerufen. Sie interagieren dabei mit einer sogenannten organischen Matrixmolekülen, namentlich Enamelin, Amelogenin (AMELX; MIM 300391), Ameloblastin (AMBN; MIM 601259), Tuftelin (TUFT1; MIM 600087), Dentine sialophosphoprotein (DSPP; MIM 125485) und einer Reihe weiterer Enzyme. Enamelin ist das größte Protein in der Zahnschmelzmatrix sich entwickelnder Zähne and bildet ungefähr 5% der gesamten Proteinmatrix des Zahnschmelzes.[1]

Weiterführende Literatur

  • 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 enamalin gene 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 caused by an enamelin gene mutation at the exon-intron boundary. in: 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 during 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

Siehe auch

Einzelnachweise

  1. ↑ a b Entrez Gene: ENAM enamelin. Abgerufen am 23. Dezember 2010.
  2. ↑ UniProt-Eintrag

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