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AMELY
Identifikatori
Aliasi	AMELY
Vanjski ID-jevi	OMIM: 410000 MGI: 88005 HomoloGene: 47996 GeneCards: AMELY
Lokacija gena (čovjek)
Hrom.	Hromosom Y
Kraj	6,911,752 bp
Lokacija gena (miš)
Hrom.	Hromosom X (miš)
Kraj	167,970,196 bp
Ontologija gena
Molekularna funkcija	• structural constituent of tooth enamel;
Ćelijska komponenta	• GO:0005578 Vanćelijski matriks; • extracellular region; • collagen-containing extracellular matrix;
Biološki proces	• multicellular organism development; • biomineral tissue development; • tooth mineralization;
	Izvori:Amigo / QuickGO
Ortolozi
	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
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Y-izoforma amelogenina je protein koji je kod ljudi kodiran genom AMELY.^[5]^[6] AMELY nalazi se na Y hromosomu i kodira oblik amelogenina. Amelogenin je protrin vanćelijskog matriksa, uključen u biomineralizaciju tokom razvoja zubih caklina.

Klinički značaj

Mutacije u povezanom genu AMELX na hromozomu X uzrokuju X-vezanu bolest amelogenesis imperfecta.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000099721 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031354 - Ensembl, maj 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 (februar 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".

Vanjski linkovi

Lokacija ljudskog genoma AMELY i stranica sa detaljima o genu AMELY u UCSC Genome Browseru.

Dopunska literatura

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.

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

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031354 - Ensembl, maj 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 (februar 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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AMELY

Klinički značaj

References

Vanjski linkovi

Dopunska literatura

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