Enamelin: Difference between revisions
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'''Enamelin''' is |
'''Enamelin''' is an enamel matrix [[protein]], that in humans is encoded by the ''ENAM'' [[gene]].<ref name="pmid11978766">{{cite journal | vauthors = Mardh CK, Backman B, Holmgren G, Hu JC, Simmer JP, Forsman-Semb K | title = A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2) | journal = Hum Mol Genet | volume = 11 | issue = 9 | pages = 1069–74 |date=Apr 2002 | pmid = 11978766 | pmc = | doi =10.1093/hmg/11.9.1069 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ENAM enamelin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10117| accessdate = }}</ref> It is part of the non [[Amelogenin|amelogenins]] which comprise 10% of the total enamel matrix proteins.<ref>{{Cite book|url=https://www.worldcat.org/oclc/1027350695|title=TEN CATE'S ORAL HISTOLOGY, 8E.|last=ANTONIO.|first=NANCI,|date=2012|publisher=ELSEVIER INDIA|isbn=813123343X|location=[Place of publication not identified],|oclc=1027350695}}</ref> It is one of the key proteins which are involved in [[amelogenesis]] (enamel development). |
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| summary_text = [[Dental enamel]] is a highly [[mineralized tissues|mineralized tissue]] with |
| summary_text = [[Dental enamel]] is a highly [[mineralized tissues|mineralized tissue]] with 96% of its volume occupied by unusually large, highly organised, hydroxyapatite crystals. This highly organised and unusual structure is thought to be rigorously controlled in ameloblasts through interactions of various organic matrix protein molecules that include: enamelin, [[amelogenin]] (AMELX), [[ameloblastin]] (AMBN), [[tuftelin]] (TUFT1), dentine [[sialophosphoprotein]] (DSPP), and a variety of enzymes. Enamelin is the largest protein (~168kDa) in the enamel matrix of developing teeth, and encompasses approximately 5% of total enamel matrix proteins.[supplied by OMIM]<ref name="entrez"/> |
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Mutations in the ENAM gene can give rise to autosomal dominant [[amelogenesis imperfecta]],<ref name="pmid11978766"/><ref name="pmid14656895">{{Cite journal |
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| last1 = Hu | first1 = J. C. |
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| last2 = Yamakoshi | first2 = Y. |
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| title = Enamelin and autosomal-dominant amelogenesis imperfecta |
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| journal = Critical Reviews in Oral Biology and Medicine |
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| volume = 14 |
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| issue = 6 |
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| pages = 387–398 |
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| year = 2003 |
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| pmid = 14656895 |
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| doi=10.1177/154411130301400602 |
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}}</ref> indicating a role in [[amelogenesis]]. |
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==References== |
==References== |
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[[Category:Proteins]] |
[[Category:Proteins]] |
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[[Category:Dentistry]] |
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[[Category:Biomineralization]] |
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[[Category:Teeth]] |
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Revision as of 11:41, 28 February 2019
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| Aliases | ENAM, AIH2, AI1C, ADAI, enamelin | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606585; MGI: 1333772; HomoloGene: 9698; GeneCards: ENAM; OMA:ENAM - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Enamelin | |||||||||
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| Identifiers | |||||||||
| Symbol | Enamelin | ||||||||
| Pfam | PF15362 | ||||||||
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Enamelin is an enamel matrix protein, that in humans is encoded by the ENAM gene.[5][6] It is part of the non amelogenins which comprise 10% of the total enamel matrix proteins.[7] It is one of the key proteins which are involved in amelogenesis (enamel development).
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000132464 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029286 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ "Entrez Gene: ENAM enamelin".
- ^ ANTONIO., NANCI, (2012). TEN CATE'S ORAL HISTOLOGY, 8E. [Place of publication not identified],: ELSEVIER INDIA. ISBN 813123343X. OCLC 1027350695.
{{cite book}}: CS1 maint: extra punctuation (link) CS1 maint: multiple names: authors list (link)
Further reading
External links
- ENAM human gene location in the UCSC Genome Browser.
- ENAM human gene details in the UCSC Genome Browser.
 | This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by expanding it. |