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{{Infobox_gene}}
'''Ameloblastin''' (abbreviated '''AMBN''' and also known as '''Sheathlin''' or '''Amelin''') is an enamel matrix [[protein]] that in humans is encoded by the AMBN [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Ameloblastin (enamel matrix protein)
| url = https://www.ncbi.nlm.nih.gov/gene/258 }}</ref>


 
== Function ==
==Overview==
'''Ameloblastin''', also known as '''amelin''', is a gene-specific protein found in [[tooth]] [[tooth enamel|enamel]]. Although less than 5% of enamel consists of protein, ameloblastins comprise 5–10% of all enamel protein. This protein is formed by [[ameloblast]]s during the early secretory to late maturation stages of [[amelogenesis]]. Although not completely understood, the function of ameloblastins is believed to be in controlling the elongation of enamel crystals and generally directing enamel mineralization during [[tooth development]].
{{SI}}
'''Ameloblastin''', also known as '''amelin''', is a gene-specific protein found in [[tooth]] [[tooth enamel|enamel]]. Although less than 5% of enamel consists of protein, ameloblastins comprise 5%-10% of all enamel protein. This protein is formed by [[ameloblast]]s during the early secertory to late maturation stages of [[amelogenesis]]. Although not completely understood, the function of ameloblastins is believed to be in controlling the elongation of enamel crystals and generally directing enamel mineralization during [[tooth development]].


Other significant proteins in enamel are [[amelogenin]]s, [[enamelin]]s, and [[tuftelin]]s.
Other significant proteins in enamel are [[amelogenin]]s, [[enamelin]]s, and [[tuftelin]]s.


This gene encodes the nonamelogenin [[enamel matrix protein]] ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfecta and [[autosomal dominant]] amelogenesis imperfecta. [provided by RefSeq, Aug 2011].


== Clinical significance ==
Mutations in AMBN cause [[amelogenesis imperfecta]].<ref>{{cite journal | vauthors = Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ | title = Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta | journal = Human Molecular Genetics | volume = 23 | issue = 20 | pages = 5317–24 | date = October 2014 | pmid = 24858907 | doi = 10.1093/hmg/ddu247 | pmc = 4168819 }}</ref>


== References ==
{{reflist}}
*{{NLM content}}


[[Category:Teeth]]
== Further reading ==
{{refbegin | 2}}
* {{cite journal | vauthors = Bartlett JD, Simmer JP | title = Proteinases in developing dental enamel | journal = Critical Reviews in Oral Biology and Medicine | volume = 10 | issue = 4 | pages = 425–41 | year = 1999 | pmid = 10634581 | doi = 10.1177/10454411990100040101 }}
* {{cite journal | vauthors = MacDougall M, DuPont BR, Simmons D, Reus B, Krebsbach P, Kärrman C, Holmgren G, Leach RJ, Forsman K | title = Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21 | journal = Genomics | volume = 41 | issue = 1 | pages = 115–8 | date = April 1997 | pmid = 9126491 | doi = 10.1006/geno.1997.4643 }}
* {{cite journal | vauthors = Kuroda S, Wazen R, Sellin K, Tanaka E, Moffatt P, Nanci A | title = Ameloblastin is not implicated in bone remodelling and repair | journal = European Cells & Materials | volume = 22 | pages = 56–66; discussion 66–7 | date = July 2011 | pmid = 21761392 }}
* {{cite journal | vauthors = Perdigão PF, Carvalho VM, DE Marco L, Gomez RS | title = Mutation of ameloblastin gene in calcifying epithelial odontogenic tumor | journal = Anticancer Research | volume = 29 | issue = 8 | pages = 3065–7 | date = August 2009 | pmid = 19661317 }}
* {{cite journal | vauthors = Tamburstuen MV, Reseland JE, Spahr A, Brookes SJ, Kvalheim G, Slaby I, Snead ML, Lyngstadaas SP | title = Ameloblastin expression and putative autoregulation in mesenchymal cells suggest a role in early bone formation and repair | journal = Bone | volume = 48 | issue = 2 | pages = 406–13 | date = February 2011 | pmid = 20854943 | doi = 10.1016/j.bone.2010.09.007 | pmc = 4469498 }}
* {{cite journal | vauthors = Toyosawa S, Fujiwara T, Ooshima T, Shintani S, Sato A, Ogawa Y, Sobue S, Ijuhin N | title = Cloning and characterization of the human ameloblastin gene | journal = Gene | volume = 256 | issue = 1-2 | pages = 1–11 | date = October 2000 | pmid = 11054529 | doi = 10.1016/s0378-1119(00)00379-6 }}
* {{cite journal | vauthors = Patir A, Seymen F, Yildirim M, Deeley K, Cooper ME, Marazita ML, Vieira AR | title = Enamel formation genes are associated with high caries experience in Turkish children | journal = Caries Research | volume = 42 | issue = 5 | pages = 394–400 | year = 2008 | pmid = 18781068 | pmc = 2820320 | doi = 10.1159/000154785 }}
* {{cite journal | vauthors = Lee SK, Krebsbach PH, Matsuki Y, Nanci A, Yamada KM, Yamada Y | title = Ameloblastin expression in rat incisors and human tooth germs | journal = The International Journal of Developmental Biology | volume = 40 | issue = 6 | pages = 1141–50 | date = December 1996 | pmid = 9032019 }}
* {{cite journal | vauthors = Niu CH, Li TJ | title = [Mutation and polymorphism of the ameloblastin gene in ameloblastomas] | language = zh | journal = Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology | volume = 41 | issue = 11 | pages = 678–81 | date = November 2006 | pmid = 17331365 }}
{{refend}}


[[ja:アメロブラスチン]]
== External links ==
[[pl:Ameloblastyna]]
* {{UCSC gene info|AMBN}}


{{WH}}
[[Category:Dental enamel]]
{{WS}}

Revision as of 20:50, 31 July 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Ameloblastin (abbreviated AMBN and also known as Sheathlin or Amelin) is an enamel matrix protein that in humans is encoded by the AMBN gene.[1]

Function

Ameloblastin, also known as amelin, is a gene-specific protein found in tooth enamel. Although less than 5% of enamel consists of protein, ameloblastins comprise 5–10% of all enamel protein. This protein is formed by ameloblasts during the early secretory to late maturation stages of amelogenesis. Although not completely understood, the function of ameloblastins is believed to be in controlling the elongation of enamel crystals and generally directing enamel mineralization during tooth development.

Other significant proteins in enamel are amelogenins, enamelins, and tuftelins.

This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfecta and autosomal dominant amelogenesis imperfecta. [provided by RefSeq, Aug 2011].

Clinical significance

Mutations in AMBN cause amelogenesis imperfecta.[2]

References

  1. ↑ "Entrez Gene: Ameloblastin (enamel matrix protein)".
  2. ↑ Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ (October 2014). "Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta". Human Molecular Genetics. 23 (20): 5317–24. doi:10.1093/hmg/ddu247. PMC 4168819. PMID 24858907.


Further reading

External links

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