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{{Short description|Protein-coding gene in humans}}
{{protein
{{Infobox_gene}}
|Name=amelogenin, Y-linked
'''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.
|caption=
|image=
|width=
|HGNCid=462
|Symbol=AMELY
|AltSymbols=AMGL
|EntrezGene=266
|OMIM=410000
|RefSeq=NM_001143
|UniProt=Q99218
|PDB=
|ECnumber=
|Chromosome=Y
|Arm=p
|Band=11
|LocusSupplementaryData=
}}


== Clinical significance ==
'''AMELY''' is short for '''Amelogenin Y gene'''.
Mutations in the related '']'' gene on the ] cause X-linked ].<ref name="entrez" />


==References==
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.
{{Reflist}}


==Referencias== ==External links==
* {{UCSC gene info|AMELY}}
1. Homo sapiens gene AMELY, encoding amelogenin, Y-linked.
National Center for Biotechnology Information
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&l=AMELY


==Further reading==
{{refbegin | 2}}
*{{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}}
*{{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}}
*{{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 }}
*{{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}}
*{{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}}
*{{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}}
*{{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 }}
*{{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}}
*{{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 }}
*{{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 }}
{{refend}}


]
==See also==
]
*]
*]
*]


]
]


{{Gene-stub}}
]

Latest revision as of 03:08, 22 May 2024

Protein-coding gene in humans
AMELY
Identifiers
AliasesAMELY, AMGL, AMGY, amelogenin, Y-linked, amelogenin Y-linked
External IDsOMIM: 410000; MGI: 88005; HomoloGene: 47996; GeneCards: AMELY; OMA:AMELY - orthologs
Gene location (Human)
Y chromosome (human)
Chr.Y chromosome (human)
Y chromosome (human)Genomic location for AMELYGenomic location for AMELY
BandYp11.2Start6,865,918 bp
End6,911,752 bp
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)
X chromosome (mouse)Genomic location for AMELYGenomic location for AMELY
BandX F5|X 78.95 cMStart167,959,110 bp
End167,970,196 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • testicle

  • gonad

  • sural nerve

  • placenta

  • Ventricular system of neuraxis

  • ventricular zone

  • thyroid gland

  • left lobe of thyroid gland

  • hepatobiliary system

  • pancreas
Top expressed in
  • molar

  • embryo

  • mandibular molars

  • nucleus pulposus

  • sexually immature organism

  • temporal muscle

  • ascending aorta

  • aortic valve

  • olfactory epithelium

  • tibiofemoral joint
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

266

11704

Ensembl

ENSG00000099721

ENSMUSG00000031354

UniProt

Q99218

P63277

RefSeq (mRNA)

NM_001143
NM_001364814

NM_001081978
NM_009666
NM_001290371

RefSeq (protein)

NP_001134
NP_001351743

NP_001075447
NP_001277300
NP_033796

Location (UCSC)Chr Y: 6.87 – 6.91 MbChr X: 167.96 – 167.97 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Amelogenin, Y isoform is a protein that in humans is encoded by the AMELY gene. AMELY is located on the Y chromosome and encodes a form of amelogenin. Amelogenin is an extracellular matrix protein involved in biomineralization during tooth enamel development.

Clinical significance

Mutations in the related AMELX gene on the X chromosome cause X-linked amelogenesis imperfecta.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000099721Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000031354Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Nakahori Y, Takenaka O, Nakagome Y (February 1991). "A human X-Y homologous region encodes "amelogenin"". Genomics. 9 (2): 264–9. doi:10.1016/0888-7543(91)90251-9. PMID 2004775.
  6. ^ "Entrez Gene: amelogenin".

External links

Further reading


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