AMELY
Amelogenin, Y-linked | |||||||||||||
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Identifiers | |||||||||||||
Symbols | AMELY ; AMGL; AMGY | ||||||||||||
External IDs | OMIM: 410000 HomoloGene: 47996 GeneCards: AMELY Gene | ||||||||||||
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Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 266 | 11704 | |||||||||||
Ensembl | ENSG00000099721 | ENSMUSG00000031354 | |||||||||||
UniProt | Q99218 | P63277 | |||||||||||
RefSeq (mRNA) | NM_001143 | NM_001081978 | |||||||||||
RefSeq (protein) | NP_001134 | NP_001075447 | |||||||||||
Location (UCSC) |
Chr Y: 6.87 – 6.87 Mb |
Chr X: 169.18 – 169.19 Mb | |||||||||||
PubMed search | |||||||||||||
Amelogenin, Y isoform is a protein that in humans is encoded by the AMELY (amelogenin, Y-linked) gene.[1][2]
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. They are involved in biomineralization during tooth enamel development. Mutations in the related AMELX gene on the X chromosome cause X-linked amelogenesis imperfecta.[2]
See also
References
- ↑ 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".
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.
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