Enamelin

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ENAM
Identifiers
AliasesENAM, ADAI, AI1C, AIH2, enamelin
External IDsMGI: 1333772 HomoloGene: 9698 GeneCards: ENAM
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for ENAM
Genomic location for ENAM
Band4q13.3Start70,628,744 bp[1]
End70,686,816 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_031889

NM_017468

RefSeq (protein)

NP_114095

NP_059496

Location (UCSC)Chr 4: 70.63 – 70.69 MbChr 5: 88.49 – 88.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Enamelin
Identifiers
SymbolEnamelin
PfamPF15362

Enamelin is a protein that in humans is encoded by the ENAM gene.[5][6]

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][6]

Mutations in the ENAM gene can give rise to autosomal dominant amelogenesis imperfecta,[5][7] indicating a role in amelogenesis.

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000132464 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029286 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ a b "Entrez Gene: ENAM enamelin".
  7. ^ 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]