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) [1] Band Yp11.2 Start 6,865,918 bp [1] End 6,911,752 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X F5|X 78.95 cM Start 169,176,114 bp [2] End 169,187,200 bp [2]
Gene ontology Molecular function • structural constituent of tooth enamel Cellular component • GO:0005578 extracellular matrix • extracellular region • collagen-containing extracellular matrix Biological process • multicellular organism development • biomineral tissue development • tooth mineralization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
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 Mb	Chr X: 169.18 – 169.19 Mb
PubMed search	[3]	[4]
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

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

References

1. GRCh38: Ensembl release 89: ENSG00000099721 - Ensembl, May 2017
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.
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

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

Further reading

• 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. 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. 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.