ENAM

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Enamelin
Identifiers
Symbols ENAM ; ADAI; AI1C; AIH2
External IDs OMIM606585 MGI1333772 HomoloGene9698 GeneCards: ENAM Gene
Orthologs
Species Human Mouse
Entrez 10117 13801
Ensembl ENSG00000132464 ENSMUSG00000029286
UniProt Q9NRM1 O55196
RefSeq (mRNA) NM_031889 NM_017468
RefSeq (protein) NP_114095 NP_059496
Location (UCSC) Chr 4:
70.63 – 70.69 Mb
Chr 5:
88.49 – 88.51 Mb
PubMed search [1] [2]
Enamelin
Identifiers
Symbol Enamelin
Pfam PF15362

Enamelin is a protein that in humans is encoded by the ENAM gene.[1][2]

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][2]

Mutations in the ENAM gene can give rise to autosomal dominant Amelogenesis imperfecta,[1][3] indicating a role in Amelogenesis.

References[edit]

  1. ^ a b 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. doi:10.1093/hmg/11.9.1069. PMID 11978766. 
  2. ^ a b "Entrez Gene: ENAM enamelin". 
  3. ^ Hu, J. C.; Yamakoshi, Y. (2003). "Enamelin and autosomal-dominant amelogenesis imperfecta". Critical reviews in oral biology and medicine : an official publication of the American Association of Oral Biologists 14 (6): 387–398. doi:10.1177/154411130301400602. PMID 14656895.  edit

Further reading[edit]

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