ENAM

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ENAM
Identifiers
Aliases ENAM, ADAI, AI1C, AIH2, enamelin
External IDs MGI: 1333772 HomoloGene: 9698 GeneCards: ENAM
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_031889

NM_017468

RefSeq (protein)

NP_114095

NP_059496.1
NP_059496

Location (UCSC) Chr 4: 70.63 – 70.69 Mb Chr 5: 88.49 – 88.51 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse
Enamelin
Identifiers
Symbol Enamelin
Pfam PF15362

Enamelin is a protein that in humans is encoded by the ENAM gene.[3][4]

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][4]

Mutations in the ENAM gene can give rise to autosomal dominant Amelogenesis imperfecta,[3][5] indicating a role in Amelogenesis.

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: ENAM enamelin". 
  5. ^ Hu, J. C.; Yamakoshi, Y. (2003). "Enamelin and autosomal-dominant amelogenesis imperfecta". Critical Reviews in Oral Biology and Medicine. 14 (6): 387–398. doi:10.1177/154411130301400602. PMID 14656895. 

Further reading[edit]

External links[edit]