AMELY
| AMELY | |||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||
| Aliases | AMELY, AMGL, AMGY, amelogenin, Y-linked, amelogenin Y-linked | ||||||||||||||||||||||||
| External IDs | OMIM: 410000 MGI: 88005 HomoloGene: 47996 GeneCards: AMELY | ||||||||||||||||||||||||
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| Orthologs | |||||||||||||||||||||||||
| Species | Human | Mouse | |||||||||||||||||||||||
| Entrez | |||||||||||||||||||||||||
| Ensembl | |||||||||||||||||||||||||
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| RefSeq (mRNA) | |||||||||||||||||||||||||
| RefSeq (protein) | |||||||||||||||||||||||||
| Location (UCSC) | Chr Y: 6.87 – 6.91 Mb | Chr X: 169.18 – 169.19 Mb | |||||||||||||||||||||||
| PubMed search | [3] | [4] | |||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||
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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 2 3 GRCh38: Ensembl release 89: ENSG00000099721 - Ensembl, May 2017
- 1 2 3 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.
- 1 2 "Entrez Gene: amelogenin".
External links
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. 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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