AMELY

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.

AMELY
Identifikatori
Aliasi	AMELY
Vanjski ID-jevi	OMIM: 410000 MGI: 88005 HomoloGene: 47996 GeneCards: AMELY
Lokacija gena (čovjek) Hrom. Hromosom Y[1] Bend Yp11.2 Početak 6,865,918 bp[1] Kraj 6,911,752 bp[1]
Lokacija gena (miš) Hrom. Hromosom X (miš)[2] Bend X F5|X 78.95 cM Početak 167,959,110 bp[2] Kraj 167,970,196 bp[2]
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
Vrste	Čovjek	Miš
Entrez	266	11704
Ensembl	ENSG00000099721	ENSMUSG00000031354
UniProt	Q99218	P63277
RefSeq (mRNK)	NM_001143 NM_001364814	NM_001081978 NM_009666 NM_001290371
RefSeq (bjelančevina)	NP_001134 NP_001351743	NP_001075447 NP_001277300 NP_033796
Lokacija (UCSC)	Chr Y: 6.87 – 6.91 Mb	Chr X: 167.96 – 167.97 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Klinički značaj

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

References

1. GRCh38: Ensembl release 89: ENSG00000099721 - Ensembl, maj 2017
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.
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.
6. "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.