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'''Amelogenin, X isoform''' is a protein that in humans is encoded by the ''AMELX'' (amelogenin, X isoform) [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: amelogenin (amelogenesis imperfecta 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=265| accessdate = }}</ref>
'''Amelogenin, X isoform''' is a protein that in humans is encoded by the ''AMELX'' (amelogenin, X isoform) [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: amelogenin (amelogenesis imperfecta 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=265| accessdate = }}</ref>


The protein Amelogenin, X isoform is an isoform of [[amelogenin]] that comes from the [[X chromosome]].<ref name="urlAceView">{{cite web | url = https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&l=AMELX | title = AceView: Gene:AMELX, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView. | author = | authorlink = | coauthors = | date = | format = | work = | publisher = National Center for Biotechnology Information, United States National Institutes of Health | pages = | archiveurl = | archivedate = | quote = | accessdate = }}</ref><ref name="pmid1734713">{{cite journal | vauthors = Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ | title = The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes | journal = American Journal of Human Genetics | volume = 50 | issue = 2 | pages = 303–16 | date = Feb 1992 | pmid = 1734713 | pmc = 1682460 | doi =  }}</ref> The protein Amelogenin is a type of extracellular matrix protein, and is involved in the progcess of [[amelogenesis]], the formation of enamel on teeth. Amelogenin X is a member of the amelogenin family of [[extracellular matrix]] proteins.  When alternative splicing occurs, it results in multiple transcript variants encoding different isoforms, which in humans results in amelogenin genes on both the X and Y chromosomes.<ref name="urlAceView"/><ref name="pmid1734713"/>
The protein Amelogenin, X isoform is an isoform of [[amelogenin]] that comes from the [[X chromosome]].<ref name="urlAceView">{{cite web | url = https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&l=AMELX | title = AceView: Gene:AMELX, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView | author = | authorlink = | date = | format = | website = | publisher = National Center for Biotechnology Information, United States National Institutes of Health | pages = | archiveurl = | archivedate = | quote = | accessdate = }}</ref><ref name="pmid1734713">{{cite journal | vauthors = Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ | title = The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes | journal = American Journal of Human Genetics | volume = 50 | issue = 2 | pages = 303–16 | date = Feb 1992 | pmid = 1734713 | pmc = 1682460 | doi =  }}</ref> The protein Amelogenin is a type of extracellular matrix protein, and is involved in the process of [[amelogenesis]], the formation of enamel on teeth. Amelogenin X is a member of the amelogenin family of [[extracellular matrix]] proteins.  When alternative splicing occurs, it results in multiple transcript variants encoding different isoforms, which in humans results in amelogenin genes on both the X and Y chromosomes.<ref name="urlAceView"/><ref name="pmid1734713"/>


== Function ==
== Function ==
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== See also ==
== See also ==
* [[Amelogenin]]
*[[AMELY]]
* [[Amelogenesis]]
* [[X chromosome]]
* [[AMELY]]


== References ==
== References ==
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== Further reading ==
== Further reading ==
{{refbegin|33em}}
{{refbegin|33em}}
* {{cite journal | vauthors = Zhu L, Tanimoto K, Le T, DenBesten PK, Li W | title = Functional roles of prolines at amelogenin C terminal during tooth enamel formation | journal = Cells, Tissues, Organs | volume = 189 | issue = 1–4 | pages = 203–6 | year = 2009 | pmid = 18701806 | pmc = 2824197 | doi = 10.1159/000151376 }}
* {{cite journal | vauthors = Zhu L, Tanimoto K, Le T, DenBesten PK, Li W | title = Functional roles of prolines at amelogenin C terminal during tooth enamel formation | journal = Cells Tissues Organs | volume = 189 | issue = 1–4 | pages = 203–6 | year = 2009 | pmid = 18701806 | pmc = 2824197 | doi = 10.1159/000151376 }}
* {{cite journal | vauthors = Lee SK, Seymen F, Kang HY, Lee KE, Gencay K, Tuna B, Kim JW | title = MMP20 hemopexin domain mutation in amelogenesis imperfecta | journal = Journal of Dental Research | volume = 89 | issue = 1 | pages = 46–50 | date = Jan 2010 | pmid = 19966041 | pmc = 3318044 | doi = 10.1177/0022034509352844 }}
* {{cite journal | vauthors = Lee SK, Seymen F, Kang HY, Lee KE, Gencay K, Tuna B, Kim JW | title = MMP20 hemopexin domain mutation in amelogenesis imperfecta | journal = Journal of Dental Research | volume = 89 | issue = 1 | pages = 46–50 | date = Jan 2010 | pmid = 19966041 | pmc = 3318044 | doi = 10.1177/0022034509352844 }}
* {{cite journal | vauthors = Sufliarska S, Minarik G, Horakova J, Bodova I, Bojtarova E, Czako B, Mistrik M, Drgona L, Demitrovicova M, Lakota J, Krivosikova M, Kovacs L | title = Establishing the method of chimerism monitoring after allogeneic stem cell transplantation using multiplex polymerase chain reaction amplification of short tandem repeat markers and Amelogenin | journal = Neoplasma | volume = 54 | issue = 5 | pages = 424–30 | year = 2007 | pmid = 17688372 | doi =  }}
* {{cite journal | vauthors = Sufliarska S, Minarik G, Horakova J, Bodova I, Bojtarova E, Czako B, Mistrik M, Drgona L, Demitrovicova M, Lakota J, Krivosikova M, Kovacs L | title = Establishing the method of chimerism monitoring after allogeneic stem cell transplantation using multiplex polymerase chain reaction amplification of short tandem repeat markers and Amelogenin | journal = Neoplasma | volume = 54 | issue = 5 | pages = 424–30 | year = 2007 | pmid = 17688372 | doi =  }}
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* {{cite journal | vauthors = Deeley K, Letra A, Rose EK, Brandon CA, Resick JM, Marazita ML, Vieira AR | title = Possible association of amelogenin to high caries experience in a Guatemalan-Mayan population | journal = Caries Research | volume = 42 | issue = 1 | pages = 8–13 | year = 2008 | pmid = 18042988 | pmc = 2814012 | doi = 10.1159/000111744 }}
* {{cite journal | vauthors = Deeley K, Letra A, Rose EK, Brandon CA, Resick JM, Marazita ML, Vieira AR | title = Possible association of amelogenin to high caries experience in a Guatemalan-Mayan population | journal = Caries Research | volume = 42 | issue = 1 | pages = 8–13 | year = 2008 | pmid = 18042988 | pmc = 2814012 | doi = 10.1159/000111744 }}
* {{cite journal | vauthors = Kim JW, Simmer JP, Hu YY, Lin BP, Boyd C, Wright JT, Yamada CJ, Rayes SK, Feigal RJ, Hu JC | title = Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta | journal = Journal of Dental Research | volume = 83 | issue = 5 | pages = 378–83 | date = May 2004 | pmid = 15111628 | doi = 10.1177/154405910408300505 }}
* {{cite journal | vauthors = Kim JW, Simmer JP, Hu YY, Lin BP, Boyd C, Wright JT, Yamada CJ, Rayes SK, Feigal RJ, Hu JC | title = Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta | journal = Journal of Dental Research | volume = 83 | issue = 5 | pages = 378–83 | date = May 2004 | pmid = 15111628 | doi = 10.1177/154405910408300505 }}
* {{cite journal | vauthors = Wright JT, Hart TC, Hart PS, Simmons D, Suggs C, Daley B, Simmer J, Hu J, Bartlett JD, Li Y, Yuan ZA, Seow WK, Gibson CW | title = Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4 | journal = Cells, Tissues, Organs | volume = 189 | issue = 1–4 | pages = 224–9 | year = 2009 | pmid = 18714142 | pmc = 2754863 | doi = 10.1159/000151378 }}
* {{cite journal | vauthors = Wright JT, Hart TC, Hart PS, Simmons D, Suggs C, Daley B, Simmer J, Hu J, Bartlett JD, Li Y, Yuan ZA, Seow WK, Gibson CW | title = Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4 | journal = Cells Tissues Organs | volume = 189 | issue = 1–4 | pages = 224–9 | year = 2009 | pmid = 18714142 | pmc = 2754863 | doi = 10.1159/000151378 }}
* {{cite journal | vauthors = Richard B, Delgado S, Gorry P, Sire JY | title = A study of polymorphism in human AMELX | journal = Archives of Oral Biology | volume = 52 | issue = 11 | pages = 1026–31 | date = Nov 2007 | pmid = 17645864 | doi = 10.1016/j.archoralbio.2007.06.001 }}
* {{cite journal | vauthors = Richard B, Delgado S, Gorry P, Sire JY | title = A study of polymorphism in human AMELX | journal = Archives of Oral Biology | volume = 52 | issue = 11 | pages = 1026–31 | date = Nov 2007 | pmid = 17645864 | doi = 10.1016/j.archoralbio.2007.06.001 }}
* {{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 = 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 = Veis A | title = Amelogenin gene splice products: potential signaling molecules | journal = Cellular and Molecular Life Sciences | volume = 60 | issue = 1 | pages = 38–55 | date = Jan 2003 | pmid = 12613657 | doi = 10.1007/s000180300003 }}
* {{cite journal | vauthors = Veis A | title = Amelogenin gene splice products: potential signaling molecules | journal = Cellular and Molecular Life Sciences | volume = 60 | issue = 1 | pages = 38–55 | date = Jan 2003 | pmid = 12613657 | doi = 10.1007/s000180300003 }}
* {{cite journal | vauthors = Tanimoto K, Le T, Zhu L, Witkowska HE, Robinson S, Hall S, Hwang P, Denbesten P, Li W | title = Reduced amelogenin-MMP20 interactions in amelogenesis imperfecta | journal = Journal of Dental Research | volume = 87 | issue = 5 | pages = 451–5 | date = May 2008 | pmid = 18434575 | doi = 10.1177/154405910808700516 }}
* {{cite journal | vauthors = Tanimoto K, Le T, Zhu L, Witkowska HE, Robinson S, Hall S, Hwang P, Denbesten P, Li W | title = Reduced amelogenin-MMP20 interactions in amelogenesis imperfecta | journal = Journal of Dental Research | volume = 87 | issue = 5 | pages = 451–5 | date = May 2008 | pmid = 18434575 | doi = 10.1177/154405910808700516 | pmc = 3677966 }}
* {{cite journal | vauthors = Hart PS, Aldred MJ, Crawford PJ, Wright NJ, Hart TC, Wright JT | title = Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations | journal = Archives of Oral Biology | volume = 47 | issue = 4 | pages = 261–5 | date = Apr 2002 | pmid = 11922869 | doi = 10.1016/S0003-9969(02)00003-1 }}
* {{cite journal | vauthors = Hart PS, Aldred MJ, Crawford PJ, Wright NJ, Hart TC, Wright JT | title = Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations | journal = Archives of Oral Biology | volume = 47 | issue = 4 | pages = 261–5 | date = Apr 2002 | pmid = 11922869 | doi = 10.1016/S0003-9969(02)00003-1 }}
* {{cite journal | vauthors = Tomas C, Stangegaard M, Børsting C, Hansen AJ, Morling N | title = Typing of 48 autosomal SNPs and amelogenin with GenPlex SNP genotyping system in forensic genetics | journal = Forensic Science International: Genetics | volume = 3 | issue = 1 | pages = 1–6 | date = Dec 2008 | pmid = 19083859 | doi = 10.1016/j.fsigen.2008.06.007 }}
* {{cite journal | vauthors = Tomas C, Stangegaard M, Børsting C, Hansen AJ, Morling N | title = Typing of 48 autosomal SNPs and amelogenin with GenPlex SNP genotyping system in forensic genetics | journal = Forensic Science International: Genetics | volume = 3 | issue = 1 | pages = 1–6 | date = Dec 2008 | pmid = 19083859 | doi = 10.1016/j.fsigen.2008.06.007 }}
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{{genetics-stub}}
 
 
 
{{Gene-X-stub}}

Latest revision as of 11:00, 28 September 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

Amelogenin, X isoform is a protein that in humans is encoded by the AMELX (amelogenin, X isoform) gene.[1]

The protein Amelogenin, X isoform is an isoform of amelogenin that comes from the X chromosome.[2][3] The protein Amelogenin is a type of extracellular matrix protein, and is involved in the process of amelogenesis, the formation of enamel on teeth. Amelogenin X is a member of the amelogenin family of extracellular matrix proteins. When alternative splicing occurs, it results in multiple transcript variants encoding different isoforms, which in humans results in amelogenin genes on both the X and Y chromosomes.[2][3]

Function

AMELX is involved in biomineralization during tooth enamel development.[4] The AMELX gene encodes for the structural modeling protein, amelogenin, which works with other amelogenesis-related proteins to direct the mineralisation of enamel. This process involves the organization of enamel rods, the basic unit of tooth enamel, as well as the inclusion and growth of hydroxyapatite crystals.

Clinical significance

Mutations in the AMELX gene can result in amelogenesis imperfecta, which refers to the collection of enamel defects resulting from either genetic or environmental causes.[5] It has been shown that mice with a knocked-out AMELX gene will present disorganized and hypoplastic enamel.[6]

See also

References

  1. ↑ "Entrez Gene: amelogenin (amelogenesis imperfecta 1".
  2. ↑ 2.0 2.1 "AceView: Gene:AMELX, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". National Center for Biotechnology Information, United States National Institutes of Health.
  3. ↑ 3.0 3.1 Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ (Feb 1992). "The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes". American Journal of Human Genetics. 50 (2): 303–16. PMC 1682460. PMID 1734713.
  4. ↑ Gibson CW, Yuan ZA, Hall B, Longenecker G, Chen E, Thyagarajan T, Sreenath T, Wright JT, Decker S, Piddington R, Harrison G, Kulkarni AB (Aug 2001). "Amelogenin-deficient mice display an amelogenesis imperfecta phenotype". The Journal of Biological Chemistry. 276 (34): 31871–5. doi:10.1074/jbc.M104624200. PMID 11406633.
  5. ↑ Wright JT (Dec 2006). "The molecular etiologies and associated phenotypes of amelogenesis imperfecta". American Journal of Medical Genetics Part A. 140 (23): 2547–55. doi:10.1002/ajmg.a.31358. PMC 1847600. PMID 16838342.
  6. ↑ Li Y, Suggs C, Wright JT, Yuan ZA, Aragon M, Fong H, Simmons D, Daly B, Golub EE, Harrison G, Kulkarni AB, Gibson CW (May 2008). "Partial rescue of the amelogenin null dental enamel phenotype". The Journal of Biological Chemistry. 283 (22): 15056–15062. doi:10.1074/jbc.M707992200. PMC 2397487. PMID 18390542.

External links

Further reading



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