AMELY

AMELY
Identifiers
Aliases	AMELY, AMGL, AMGY, amelogenin, Y-linked, amelogenin Y-linked
External IDs	OMIM: 410000 MGI: 88005 HomoloGene: 47996 GeneCards: AMELY
Gene location (Human)
Chr.	Y chromosome (human)
End	6,911,752 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	167,970,196 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; placenta; ; thyroid gland; ; left lobe of thyroid gland; ; hepatobiliary system; ; pancreas; ; body of pancreas; ; right lobe of thyroid gland; ; islet of Langerhans; ; gallbladder;
	Top expressed in
	molar; ; nucleus pulposus; ; sexually immature organism; ; temporal muscle; ; ascending aorta; ; aortic valve; ; olfactory epithelium; ; dermis; ; uterus; ; thymus;
	More reference expression data
	n/a
Gene ontology
Molecular function	structural constituent of tooth enamel;
Cellular component	extracellular matrix; extracellular region; collagen-containing extracellular matrix;
Biological process	multicellular organism development; biomineral tissue development; tooth mineralization;
	Sources:Amigo / QuickGO
Orthologs
	266
	11704
	ENSG00000099721
	ENSMUSG00000031354
	Q99218
	P63277
	NM_001143; NM_001364814
	NM_001081978; NM_009666; NM_001290371
	NP_001134; NP_001351743
	NP_001075447; NP_001277300; NP_033796
	Wikidata
View/Edit Human	View/Edit Mouse

Amelogenin, Y isoform is a protein that in humans is encoded by the AMELY gene.^[5]^[6] 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[edit]

Mutations in the related AMELX gene on the X chromosome cause X-linked amelogenesis imperfecta.^[6]

References[edit]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000099721 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031354 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: amelogenin".

External links[edit]

Human AMELY genome location and AMELY gene details page in the UCSC Genome Browser.

Further reading[edit]

Nakahori Y, Tamura T, Nagafuchi S, et al. (1991). "Molecular cloning and mapping of 10 new probes on the human Y chromosome". Genomics. 9 (4): 765–9. doi:10.1016/0888-7543(91)90373-M. PMID 2037302.
Lau EC, Mohandas TK, Shapiro LJ, et al. (1989). "Human and mouse amelogenin gene loci are on the sex chromosomes". Genomics. 4 (2): 162–8. doi:10.1016/0888-7543(89)90295-4. PMID 2737677.
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, et al. (2003). "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes". Nature. 423 (6942): 825–37. Bibcode:2003Natur.423..825S. doi:10.1038/nature01722. PMID 12815422.
Jobling MA, Lo IC, Turner DJ, et al. (2007). "Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y". Hum. Mol. Genet. 16 (3): 307–16. doi:10.1093/hmg/ddl465. PMC 2590852. PMID 17189292.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Salido EC, Yen PH, Koprivnikar K, et al. (1992). "The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes". Am. J. Hum. Genet. 50 (2): 303–16. PMC 1682460. PMID 1734713.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Chen AP, Chen Y, Wang HP, et al. (2007). "[Types and frequencies of variants in Amelogenin gene in Chinese population]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 24 (6): 615–9. PMID 18067069.
Barbe L, Lundberg E, Oksvold P, et al. (2008). "Toward a confocal subcellular atlas of the human proteome". Mol. Cell. Proteomics. 7 (3): 499–508. doi:10.1074/mcp.M700325-MCP200. PMID 18029348.
Yong RY, Gan LS, Chang YM, Yap EP (2007). "Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations". Hum. Genet. 122 (3–4): 237–49. doi:10.1007/s00439-007-0389-0. PMID 17588179. S2CID 13481624.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000099721 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031354 – Ensembl, 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.

[pmid2004775-5] 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.

[entrez-6] "Entrez Gene: amelogenin".

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