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{{Short description|Protein-coding gene in humans}} |
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{{protein |
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{{Infobox_gene}} |
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|Name=amelogenin, Y-linked |
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'''Amelogenin, Y isoform''' is a ] that in humans is encoded by the ''AMELY'' ].<ref name="pmid2004775">{{cite journal | vauthors = Nakahori Y, Takenaka O, Nakagome Y | title = A human X-Y homologous region encodes "amelogenin" | journal = Genomics | volume = 9 | issue = 2 | pages = 264–9 |date=February 1991 | pmid = 2004775 | doi = 10.1016/0888-7543(91)90251-9}}</ref><ref name="entrez">{{cite web | title = Entrez Gene: amelogenin| url = https://www.ncbi.nlm.nih.gov/gene/265}}</ref> ''AMELY'' is located on the ] and encodes a form of ]. Amelogenin is an ] protein involved in biomineralization during tooth enamel development. |
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|caption= |
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|image= |
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|HGNCid=462 |
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|Symbol=AMELY |
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|AltSymbols=AMGL |
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|EntrezGene=266 |
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|OMIM=410000 |
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|RefSeq=NM_001143 |
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|UniProt=Q99218 |
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|PDB= |
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|ECnumber= |
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|Chromosome=Y |
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|Arm=p |
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|Band=11 |
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|LocusSupplementaryData= |
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}} |
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== Clinical significance == |
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'''AMELY''' is short for '''Amelogenin Y gene'''. |
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Mutations in the related '']'' gene on the ] cause X-linked ].<ref name="entrez" /> |
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==References== |
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AMELY is a gene which encodes a form of amelogenin found on the Y chromosome. Amelogenin is a member of a family of extracellular matrix proteins: Amelogenins. They are involved in biomineralization during tooth enamel development. |
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{{Reflist}} |
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==Referencias== |
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==External links== |
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* {{UCSC gene info|AMELY}} |
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1. Homo sapiens gene AMELY, encoding amelogenin, Y-linked. |
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National Center for Biotechnology Information |
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http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&l=AMELY |
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==Further reading== |
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{{refbegin | 2}} |
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*{{cite journal |vauthors =Nakahori Y, Tamura T, Nagafuchi S |title=Molecular cloning and mapping of 10 new probes on the human Y chromosome. |journal=Genomics |volume=9 |issue= 4 |pages= 765–9 |year= 1991 |pmid= 2037302 |doi=10.1016/0888-7543(91)90373-M |display-authors=etal}} |
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*{{cite journal |vauthors =Lau EC, Mohandas TK, Shapiro LJ |title=Human and mouse amelogenin gene loci are on the sex chromosomes. |journal=Genomics |volume=4 |issue= 2 |pages= 162–8 |year= 1989 |pmid= 2737677 |doi=10.1016/0888-7543(89)90295-4 |display-authors=etal}} |
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*{{cite journal |vauthors =Skaletsky H, Kuroda-Kawaguchi T, Minx PJ |title=The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. |journal=Nature |volume=423 |issue= 6942 |pages= 825–37 |year= 2003 |pmid= 12815422 |doi= 10.1038/nature01722 |bibcode=2003Natur.423..825S |display-authors=etal|doi-access=free }} |
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*{{cite journal |vauthors =Jobling MA, Lo IC, Turner DJ |title=Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y |journal=Hum. Mol. Genet. |volume=16 |issue= 3 |pages= 307–16 |year= 2007 |pmid= 17189292 |pmc=2590852 |doi= 10.1093/hmg/ddl465 |display-authors=etal}} |
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*{{cite journal |vauthors =Gerhard DS, Wagner L, Feingold EA |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |pmc=528928 |doi= 10.1101/gr.2596504 |display-authors=etal}} |
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*{{cite journal |vauthors =Salido EC, Yen PH, Koprivnikar K |title=The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes |journal=Am. J. Hum. Genet. |volume=50 |issue= 2 |pages= 303–16 |year= 1992 |pmid= 1734713 |pmc=1682460 |display-authors=etal}} |
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*{{cite journal |vauthors =Strausberg RL, Feingold EA, Grouse LH |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= 2002 |pmid= 12477932 |pmc=139241 |doi= 10.1073/pnas.242603899 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }} |
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*{{cite journal |vauthors =Chen AP, Chen Y, Wang HP |title= |journal=Zhonghua Yi Xue Yi Chuan Xue Za Zhi |volume=24 |issue= 6 |pages= 615–9 |year= 2007 |pmid= 18067069 |display-authors=etal}} |
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*{{cite journal |vauthors =Barbe L, Lundberg E, Oksvold P |title=Toward a confocal subcellular atlas of the human proteome |journal=Mol. Cell. Proteomics |volume=7 |issue= 3 |pages= 499–508 |year= 2008 |pmid= 18029348 |doi= 10.1074/mcp.M700325-MCP200 |display-authors=etal|doi-access=free }} |
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*{{cite journal |vauthors =Yong RY, Gan LS, Chang YM, Yap EP |title=Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations |journal=Hum. Genet. |volume=122 |issue= 3–4 |pages= 237–49 |year= 2007 |pmid= 17588179 |doi= 10.1007/s00439-007-0389-0 |s2cid=13481624 }} |
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{{refend}} |
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==See also== |
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*] |
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{{Gene-stub}} |
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] |
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