Biology:AMELY
From HandWiki
Short description: Protein-coding gene in humans
 Generic protein structure example |
Amelogenin, Y isoform is a protein that in humans is encoded by the AMELY gene.[1][2] 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.[2]
References
- ↑ "A human X-Y homologous region encodes "amelogenin"". Genomics 9 (2): 264–9. February 1991. doi:10.1016/0888-7543(91)90251-9. PMID 2004775.
- ↑ 2.0 2.1 "Entrez Gene: amelogenin". https://www.ncbi.nlm.nih.gov/gene/265.
External links
- Human AMELY genome location and AMELY gene details page in the UCSC Genome Browser.
Further reading
- "Molecular cloning and mapping of 10 new probes on the human Y chromosome.". Genomics 9 (4): 765–9. 1991. doi:10.1016/0888-7543(91)90373-M. PMID 2037302.
- "Human and mouse amelogenin gene loci are on the sex chromosomes.". Genomics 4 (2): 162–8. 1989. doi:10.1016/0888-7543(89)90295-4. PMID 2737677.
- "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.". Nature 423 (6942): 825–37. 2003. doi:10.1038/nature01722. PMID 12815422. Bibcode: 2003Natur.423..825S.
- "Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y". Hum. Mol. Genet. 16 (3): 307–16. 2007. doi:10.1093/hmg/ddl465. PMID 17189292.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes". Am. J. Hum. Genet. 50 (2): 303–16. 1992. PMID 1734713.
- "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. 2002. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "[Types and frequencies of variants in Amelogenin gene in Chinese population]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24 (6): 615–9. 2007. PMID 18067069.
- "Toward a confocal subcellular atlas of the human proteome". Mol. Cell. Proteomics 7 (3): 499–508. 2008. doi:10.1074/mcp.M700325-MCP200. PMID 18029348.
- "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. 2007. doi:10.1007/s00439-007-0389-0. PMID 17588179.
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