AMELX

AMELX
Identifikatori
Aliasi	AMELX
Vanjski ID-jevi	OMIM: 300391 MGI: 88005 HomoloGene: 36056 GeneCards: AMELX
Lokacija gena (čovjek) Hrom. Hromosom X[1] Bend Xp22.2 Početak 11,293,413 bp[1] Kraj 11,300,761 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 • GO:0001948, GO:0016582 vezivanje za proteine • hydroxyapatite binding • vezivanje identičnih proteina • growth factor activity Ćelijska komponenta • extracellular region • cell surface • endoplasmic reticulum lumen • GO:0005578 Vanćelijski matriks • collagen-containing extracellular matrix • citoplazma • Golđijev aparat • endocytic vesicle Biološki proces • positive regulation of collagen biosynthetic process • chondrocyte differentiation • biomineral tissue development • multicellular organism development • odontogenesis of dentin-containing tooth • Ćelijska adhezija • tooth mineralization • osteoblast differentiation • epithelial to mesenchymal transition • enamel mineralization • GO:0072468 Transdukcija signala • positive regulation of tooth mineralization • regulation of cell population proliferation • Posttranslacione modifikacije • regulation of signaling receptor activity • response to nutrient • response to calcium ion Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	265	11704
Ensembl	ENSG00000125363	ENSMUSG00000031354
UniProt	Q99217	P63277
RefSeq (mRNK)	NM_001142 NM_182680 NM_182681	NM_001081978 NM_009666 NM_001290371
RefSeq (bjelančevina)	NP_001133 NP_872621 NP_872622	NP_001075447 NP_001277300 NP_033796
Lokacija (UCSC)	Chr X: 11.29 – 11.3 Mb	Chr X: 167.96 – 167.97 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

X-izoforma amelogeninina je protein koji je kod ćovjeka kodiran genom AMELX.^[5] AMELX se nalazi na hromosomu X i kodira skup izoformi amelogenina pomoću alternativne prerade RNK.^[6][7] Amelogenin je protein vanćelijskog matriksa, uključen u proces amelogeneze, formiranja cakline na zubima.

Funkcija

AMELX je uključen u biomineralizaciju tokom razvoja zubne cakline.^[8] Gen AMELX kodira protein strukturnog modeliranja, amelogenin, koji djeluje sa ostalim proteinima povezanim s amelogenezom, kako bi usmjerio mineralizaciju cakline. Ovaj proces uključuje organizaciju caklinskih štapiča, osnovne jedinice zubne cakline, kao i uključivanje i rast kristala hidroksiapatita.

Klinički značaj

Mutacije u AMELX rezultiraju bolešću zvanom amelogenesis imperfecta.^[9] Pokazano je da miševi sa nokaut AMELX-om eksprimiraju neorganiziranu i hipoplazijsku caklinu.^[10]

Također pogledajte

• AMELY

Reference

1. GRCh38: Ensembl release 89: ENSG00000125363 - 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. "Entrez Gene: amelogenin (amelogenesis imperfecta 1".
6. "AceView: Gene:AMELX, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". National Center for Biotechnology Information, United States National Institutes of Health.
7. Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ (Feb 1992). "The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes". American Journal of Human Genetics. 50 (2): 303–16. PMC 1682460. PMID 1734713.
8. Gibson CW, Yuan ZA, Hall B, Longenecker G, Chen E, Thyagarajan T, Sreenath T, Wright JT, Decker S, Piddington R, Harrison G, Kulkarni AB (Aug 2001). "Amelogenin-deficient mice display an amelogenesis imperfecta phenotype". The Journal of Biological Chemistry. 276 (34): 31871–5. doi:10.1074/jbc.M104624200. PMID 11406633.
9. Wright JT (Dec 2006). "The molecular etiologies and associated phenotypes of amelogenesis imperfecta". American Journal of Medical Genetics Part A. 140 (23): 2547–55. doi:10.1002/ajmg.a.31358. PMC 1847600. PMID 16838342.
10. Li Y, Suggs C, Wright JT, Yuan ZA, Aragon M, Fong H, Simmons D, Daly B, Golub EE, Harrison G, Kulkarni AB, Gibson CW (maj 2008). "Partial rescue of the amelogenin null dental enamel phenotype". The Journal of Biological Chemistry. 283 (22): 15056–15062. doi:10.1074/jbc.M707992200. PMC 2397487. PMID 18390542.

Vanjsk linkovi

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

Dopunska literatura

• Zhu L, Tanimoto K, Le T, DenBesten PK, Li W (2009). "Functional roles of prolines at amelogenin C terminal during tooth enamel formation". Cells Tissues Organs. 189 (1–4): 203–6. doi:10.1159/000151376. PMC 2824197. PMID 18701806.
• Lee SK, Seymen F, Kang HY, Lee KE, Gencay K, Tuna B, Kim JW (Jan 2010). "MMP20 hemopexin domain mutation in amelogenesis imperfecta". Journal of Dental Research. 89 (1): 46–50. doi:10.1177/0022034509352844. PMC 3318044. PMID 19966041.
• Sufliarska S, Minarik G, Horakova J, Bodova I, Bojtarova E, Czako B, Mistrik M, Drgona L, Demitrovicova M, Lakota J, Krivosikova M, Kovacs L (2007). "Establishing the method of chimerism monitoring after allogeneic stem cell transplantation using multiplex polymerase chain reaction amplification of short tandem repeat markers and Amelogenin". Neoplasma. 54 (5): 424–30. PMID 17688372.
• Tarasevich BJ, Lea S, Bernt W, Engelhard MH, Shaw WJ (Feb 2009). "Changes in the quaternary structure of amelogenin when adsorbed onto surfaces". Biopolymers. 91 (2): 103–7. doi:10.1002/bip.21095. PMC 2655232. PMID 19025992.
• Chen AP, Chen Y, Wang HP, Chen WH, Chen H, Chen LX, Sun HY (Dec 2007). "[Types and frequencies of variants in Amelogenin gene in Chinese population]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics. 24 (6): 615–9. PMID 18067069.
• Barbe L, Lundberg E, Oksvold P, Stenius A, Lewin E, Björling E, Asplund A, Pontén F, Brismar H, Uhlén M, Andersson-Svahn H (Mar 2008). "Toward a confocal subcellular atlas of the human proteome". Molecular & Cellular Proteomics. 7 (3): 499–508. doi:10.1074/mcp.M700325-MCP200. PMID 18029348.
• Deeley K, Letra A, Rose EK, Brandon CA, Resick JM, Marazita ML, Vieira AR (2008). "Possible association of amelogenin to high caries experience in a Guatemalan-Mayan population". Caries Research. 42 (1): 8–13. doi:10.1159/000111744. PMC 2814012. PMID 18042988.
• Kim JW, Simmer JP, Hu YY, Lin BP, Boyd C, Wright JT, Yamada CJ, Rayes SK, Feigal RJ, Hu JC (maj 2004). "Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta". Journal of Dental Research. 83 (5): 378–83. doi:10.1177/154405910408300505. PMID 15111628.
• Wright JT, Hart TC, Hart PS, Simmons D, Suggs C, Daley B, Simmer J, Hu J, Bartlett JD, Li Y, Yuan ZA, Seow WK, Gibson CW (2009). "Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4". Cells Tissues Organs. 189 (1–4): 224–9. doi:10.1159/000151378. PMC 2754863. PMID 18714142.
• Richard B, Delgado S, Gorry P, Sire JY (Nov 2007). "A study of polymorphism in human AMELX". Archives of Oral Biology. 52 (11): 1026–31. doi:10.1016/j.archoralbio.2007.06.001. PMID 17645864.
• Patir A, Seymen F, Yildirim M, Deeley K, Cooper ME, Marazita ML, Vieira AR (2008). "Enamel formation genes are associated with high caries experience in Turkish children". Caries Research. 42 (5): 394–400. doi:10.1159/000154785. PMC 2820320. PMID 18781068.
• Veis A (Jan 2003). "Amelogenin gene splice products: potential signaling molecules". Cellular and Molecular Life Sciences. 60 (1): 38–55. doi:10.1007/s000180300003. PMID 12613657.
• Tanimoto K, Le T, Zhu L, Witkowska HE, Robinson S, Hall S, Hwang P, Denbesten P, Li W (maj 2008). "Reduced amelogenin-MMP20 interactions in amelogenesis imperfecta". Journal of Dental Research. 87 (5): 451–5. doi:10.1177/154405910808700516. PMC 3677966. PMID 18434575.
• Hart PS, Aldred MJ, Crawford PJ, Wright NJ, Hart TC, Wright JT (Apr 2002). "Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations". Archives of Oral Biology. 47 (4): 261–5. doi:10.1016/S0003-9969(02)00003-1. PMID 11922869.
• Tomas C, Stangegaard M, Børsting C, Hansen AJ, Morling N (Dec 2008). "Typing of 48 autosomal SNPs and amelogenin with GenPlex SNP genotyping system in forensic genetics". Forensic Science International: Genetics. 3 (1): 1–6. doi:10.1016/j.fsigen.2008.06.007. PMID 19083859.
• Hart PS, Hart TC, Simmer JP, Wright JT (Apr 2002). "A nomenclature for X-linked amelogenesis imperfecta". Archives of Oral Biology. 47 (4): 255–60. doi:10.1016/S0003-9969(02)00005-5. PMID 11922868.
• Deutsch D, Haze-Filderman A, Blumenfeld A, Dafni L, Leiser Y, Shay B, Gruenbaum-Cohen Y, Rosenfeld E, Fermon E, Zimmermann B, Haegewald S, Bernimoulin JP, Taylor AL (maj 2006). "Amelogenin, a major structural protein in mineralizing enamel, is also expressed in soft tissues: brain and cells of the hematopoietic system". European Journal of Oral Sciences. 114 Suppl 1: 183–9, discussion 201–2, 381. doi:10.1111/j.1600-0722.2006.00301.x. PMID 16674683.