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{{Infobox_gene}}
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{Infobox protein family
{{GNF_Protein_box
| Symbol = Enamelin
| image =
| Name = Enamelin
| image_source = 
|  Pfam = PF15362
| PDB =
| Name = Enamelin
| HGNCid = 3344
| Symbol = ENAM
| AltSymbols =; ADAI; AIH2
| OMIM = 606585
  | ECnumber =
| Homologene = 9698
| MGIid = 1333772
| Function = {{GNF_GO|id=GO:0030345 |text = structural constituent of tooth enamel}}
| Component = {{GNF_GO|id=GO:0005578 |text = proteinaceous extracellular matrix}}
| Process = {{GNF_GO|id=GO:0030282 |text = bone mineralization}} {{GNF_GO|id=GO:0042476 |text = odontogenesis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 10117
    | Hs_Ensembl = ENSG00000132464
    | Hs_RefseqProtein = NP_114095
    | Hs_RefseqmRNA = NM_031889
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 4
    | Hs_GenLoc_start = 71714082
    | Hs_GenLoc_end = 71731400
    | Hs_Uniprot = Q9NRM1
    | Mm_EntrezGene = 13801
    | Mm_Ensembl = ENSMUSG00000029286
    | Mm_RefseqmRNA = XM_976899
    | Mm_RefseqProtein = XP_981993
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 5
    | Mm_GenLoc_start = 89562536
    | Mm_GenLoc_end = 89579289
    | Mm_Uniprot = Q548P8
  }}
}}
}}
'''Enamelin''', also known as '''ENAM''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ENAM enamelin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10117| accessdate = }}</ref>
'''Enamelin''' is a [[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>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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]<ref name="entrez">{{cite web | title = Entrez Gene: ENAM enamelin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10117| accessdate = }}</ref>
| summary_text = [[Dental enamel]] is a highly [[mineralized tissues|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]<ref name="entrez"/>
}}
}}
Mutations in the ENAM gene can give rise to autosomal dominant [[Amelogenesis imperfecta]],<ref name="pmid11978766"/><ref name="pmid14656895">{{Cite journal
| last1 = Hu | first1 = J. C.
| last2 = Yamakoshi | first2 = Y.
| title = Enamelin and autosomal-dominant amelogenesis imperfecta
| journal = Critical Reviews in Oral Biology and Medicine
| volume = 14
| issue = 6
| pages = 387–398
| year = 2003
| pmid = 14656895
| doi=10.1177/154411130301400602
}}</ref> indicating a role in [[Amelogenesis]].


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal | author=Hu JC, Yamakoshi Y |title=Enamelin and autosomal-dominant amelogenesis imperfecta. |journal=Crit. Rev. Oral Biol. Med. |volume=14 |issue= 6 |pages= 387-98 |year= 2003 |pmid= 14656895 |doi=  }}
*{{cite journal |title=Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta. |journal=Arch. Oral Biol. |volume=52 |issue= 5 |pages= 503–6 |year= 2007 |pmid= 17316551 |doi= 10.1016/j.archoralbio.2006.09.014 |author1=Gutierrez SJ |author2=Chaves M |author3=Torres DM |author4=Briceño I |name-list-format=vanc }}
*{{cite journal  | author=Gutierrez SJ, Chaves M, Torres DM, Briceño I |title=Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta. |journal=Arch. Oral Biol. |volume=52 |issue= 5 |pages= 503-6 |year= 2007 |pmid= 17316551 |doi= 10.1016/j.archoralbio.2006.09.014 }}
*{{cite journal |title=Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. |journal=Arch. Oral Biol. |volume=52 |issue= 3 |pages= 209–17 |year= 2007 |pmid= 17125728 |doi= 10.1016/j.archoralbio.2006.10.010 |author1=Pavlic A |author2=Petelin M |author3=Battelino T |name-list-format=vanc }}
*{{cite journal | author=Pavlic A, Petelin M, Battelino T |title=Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. |journal=Arch. Oral Biol. |volume=52 |issue= 3 |pages= 209-17 |year= 2007 |pmid= 17125728 |doi= 10.1016/j.archoralbio.2006.10.010 }}
*{{cite journal |title=Phosphoproteomic analysis of the developing mouse brain. |journal=Mol. Cell. Proteomics |volume=3 |issue= 11 |pages= 1093–101 |year= 2005 |pmid= 15345747 |doi= 10.1074/mcp.M400085-MCP200 |display-authors=3 |author1=Ballif BA |author2=n J |author3=Villé Beausoleil SA |name-list-format=vanc |last4=Schwartz |first4=D |last5=Gygi |first5=SP }}
*{{cite journal | author=Ballif BA, Villén J, Beausoleil SA, ''et al.'' |title=Phosphoproteomic analysis of the developing mouse brain. |journal=Mol. Cell Proteomics |volume=3 |issue= 11 |pages= 1093-101 |year= 2005 |pmid= 15345747 |doi= 10.1074/mcp.M400085-MCP200 }}
*{{cite journal |title=Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects |journal=J. Med. Genet. |volume=40 |issue= 12 |pages= 900–6 |year= 2004 |pmid= 14684688 |doi=10.1136/jmg.40.12.900 |display-authors=3 |author1=Hart TC |author2=Hart PS |author3=Gorry MC |name-list-format=vanc |last4=Michalec |first4=MD |last5=Ryu |first5=OH |last6=Uygur |first6=C |last7=Ozdemir |first7=D |last8=Firatli |first8=S |last9=Aren |first9=G |pmc=1735344 }}
*{{cite journal | author=Hart TC, Hart PS, Gorry MC, ''et al.'' |title=Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. |journal=J. Med. Genet. |volume=40 |issue= 12 |pages= 900-6 |year= 2004 |pmid= 14684688 |doi=  }}
*{{cite journal |title=Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature |journal=Arch. Oral Biol. |volume=48 |issue= 8 |pages= 589–96 |year= 2003 |pmid= 12828988 |doi=10.1016/S0003-9969(03)00114-6 |display-authors=3 |author1=Hart PS |author2=Michalec MD |author3=Seow WK |name-list-format=vanc |last4=Hart |first4=TC |last5=Wright |first5=JT }}
*{{cite journal | author=Hart PS, Michalec MD, Seow WK, ''et al.'' |title=Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. |journal=Arch. Oral Biol. |volume=48 |issue= 8 |pages= 589-96 |year= 2003 |pmid= 12828988 |doi=  }}
*{{cite journal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |display-authors=3 |author1=Strausberg RL |author2=Feingold EA |author3=Grouse LH |name-list-format=vanc |last4=Derge |first4=JG |last5=Klausner |first5=RD |last6=Collins |first6=FS |last7=Wagner |first7=L |last8=Shenmen |first8=CM |last9=Schuler |first9=GD |pmc=139241 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal |title=Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary |journal=J. Dent. Res. |volume=81 |issue= 11 |pages= 738–42 |year= 2002 |pmid= 12407086 |doi=10.1177/154405910208101103 |display-authors=3 |author1=Kida M |author2=Ariga T |author3=Shirakawa T |name-list-format=vanc |last4=Oguchi |first4=H |last5=Sakiyama |first5=Y }}
*{{cite journal | author=Kida M, Ariga T, Shirakawa T, ''et al.'' |title=Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. |journal=J. Dent. Res. |volume=81 |issue= 11 |pages= 738-42 |year= 2002 |pmid= 12407086 |doi= }}
*{{cite journal |title=Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta |journal=Hum. Mol. Genet. |volume=10 |issue= 16 |pages= 1673–7 |year= 2001 |pmid= 11487571 |doi=10.1093/hmg/10.16.1673 |display-authors=3 |author1=Rajpar MH |author2=Harley K |author3=Laing C |name-list-format=vanc |last4=Davies |first4=RM |last5=Dixon |first5=MJ }}
*{{cite journal  | author=Mårdh CK, Bäckman B, Holmgren G, ''et al.'' |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 |year= 2002 |pmid= 11978766 |doi=  }}
*{{cite journal |title=DNA Cloning Using In Vitro Site-Specific Recombination |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000 |author1=Hartley JL |author2=Temple GF |author3=Brasch MA |name-list-format=vanc |pmc=310948}}
*{{cite journal | author=Rajpar MH, Harley K, Laing C, ''et al.'' |title=Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. |journal=Hum. Mol. Genet. |volume=10 |issue= 16 |pages= 1673-7 |year= 2001 |pmid= 11487571 |doi=  }}
*{{cite journal |title=Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus |journal=Eur. J. Oral Sci. |volume=108 |issue= 5 |pages= 353–8 |year= 2001 |pmid= 11037750 |doi=10.1034/j.1600-0722.2000.108005353.x |author1=Dong J |author2=Gu TT |author3=Simmons D |author4=MacDougall M |name-list-format=vanc }}
*{{cite journal | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi= }}
*{{cite journal |title=Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development |journal=J. Dent. Res. |volume=79 |issue= 4 |pages= 912–9 |year= 2000 |pmid= 10831092 |doi=10.1177/00220345000790040501 |display-authors=3 |author1=Hu CC |author2=Hart TC |author3=Dupont BR |name-list-format=vanc |last4=Chen |first4=JJ |last5=Sun |first5=X |last6=Qian |first6=Q |last7=Zhang |first7=CH |last8=Jiang |first8=H |last9=Mattern |first9=VL }}
*{{cite journal | author=Dong J, Gu TT, Simmons D, MacDougall M |title=Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. |journal=Eur. J. Oral Sci. |volume=108 |issue= 5 |pages= 353-8 |year= 2001 |pmid= 11037750 |doi=  }}
*{{cite journal |title=Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q |journal=Hum. Mol. Genet. |volume=3 |issue= 9 |pages= 1621–5 |year= 1995 |pmid= 7833920 |doi=10.1093/hmg/3.9.1621 |display-authors=3 |author1=Forsman K |author2=Lind L |author3=Bäckman B |name-list-format=vanc |last4=Westermark |first4=E |last5=Holmgren |first5=G }}
*{{cite journal | author=Hu CC, Hart TC, Dupont BR, ''et al.'' |title=Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development. |journal=J. Dent. Res. |volume=79 |issue= 4 |pages= 912-9 |year= 2000 |pmid= 10831092 |doi=  }}
*{{cite journal | author=Forsman K, Lind L, Bäckman B, ''et al.'' |title=Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q. |journal=Hum. Mol. Genet. |volume=3 |issue= 9 |pages= 1621-5 |year= 1995 |pmid= 7833920 |doi=  }}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* {{UCSC genome browser|ENAM}}
* {{UCSC gene details|ENAM}}
 
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{{gene-4-stub}}

Latest revision as of 00:30, 31 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human
Enamelin
Identifiers
SymbolEnamelin
PfamPF15362

Enamelin is a protein that in humans is encoded by the ENAM gene.[1][2]

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][2]

Mutations in the ENAM gene can give rise to autosomal dominant Amelogenesis imperfecta,[1][3] indicating a role in Amelogenesis.

References

  1. ↑ 1.0 1.1 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.
  2. ↑ 2.0 2.1 "Entrez Gene: ENAM enamelin".
  3. ↑ 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

External links



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