Biology:AMELX
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Short description: Protein-coding gene in humans
 Generic protein structure example |
Amelogenin, X isoform is a protein that in humans is encoded by the AMELX gene.[1] AMELX is located on the X chromosome and encodes a set of isoforms of amelogenin by alternative splicing.[2][3] Amelogenin is an extracellular matrix protein involved in the process of amelogenesis, the formation of enamel on teeth.
Function
AMELX is involved in biomineralization during tooth enamel development.[4] The AMELX gene encodes for the structural modeling protein, amelogenin, which works with other amelogenesis-related proteins to direct the mineralisation of enamel. This process involves the organization of enamel rods, the basic unit of tooth enamel, as well as the inclusion and growth of hydroxyapatite crystals.
Clinical significance
Mutations in AMELX result in amelogenesis imperfecta.[5] It has been shown that mice with a knocked-out AMELX gene will present disorganized and hypoplastic enamel.[6]
See also
References
- ↑ "Entrez Gene: amelogenin (amelogenesis imperfecta 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=265.
- ↑ "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. https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&l=AMELX.
- ↑ "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. Feb 1992. PMID 1734713.
- ↑ "Amelogenin-deficient mice display an amelogenesis imperfecta phenotype". The Journal of Biological Chemistry 276 (34): 31871–5. Aug 2001. doi:10.1074/jbc.M104624200. PMID 11406633.
- ↑ "The molecular etiologies and associated phenotypes of amelogenesis imperfecta". American Journal of Medical Genetics Part A 140 (23): 2547–55. Dec 2006. doi:10.1002/ajmg.a.31358. PMID 16838342.
- ↑ "Partial rescue of the amelogenin null dental enamel phenotype". The Journal of Biological Chemistry 283 (22): 15056–15062. May 2008. doi:10.1074/jbc.M707992200. PMID 18390542.
External links
- Human AMELX genome location and AMELX gene details page in the UCSC Genome Browser.
Further reading
- "Functional roles of prolines at amelogenin C terminal during tooth enamel formation". Cells Tissues Organs 189 (1–4): 203–6. 2009. doi:10.1159/000151376. PMID 18701806.
- "MMP20 hemopexin domain mutation in amelogenesis imperfecta". Journal of Dental Research 89 (1): 46–50. Jan 2010. doi:10.1177/0022034509352844. PMID 19966041.
- "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. 2007. PMID 17688372.
- "Changes in the quaternary structure of amelogenin when adsorbed onto surfaces". Biopolymers 91 (2): 103–7. Feb 2009. doi:10.1002/bip.21095. PMID 19025992.
- "[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. Dec 2007. PMID 18067069.
- "Toward a confocal subcellular atlas of the human proteome". Molecular & Cellular Proteomics 7 (3): 499–508. Mar 2008. doi:10.1074/mcp.M700325-MCP200. PMID 18029348.
- "Possible association of amelogenin to high caries experience in a Guatemalan-Mayan population". Caries Research 42 (1): 8–13. 2008. doi:10.1159/000111744. PMID 18042988.
- "Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta". Journal of Dental Research 83 (5): 378–83. May 2004. doi:10.1177/154405910408300505. PMID 15111628.
- "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. 2009. doi:10.1159/000151378. PMID 18714142.
- "A study of polymorphism in human AMELX". Archives of Oral Biology 52 (11): 1026–31. Nov 2007. doi:10.1016/j.archoralbio.2007.06.001. PMID 17645864.
- "Enamel formation genes are associated with high caries experience in Turkish children". Caries Research 42 (5): 394–400. 2008. doi:10.1159/000154785. PMID 18781068.
- "Amelogenin gene splice products: potential signaling molecules". Cellular and Molecular Life Sciences 60 (1): 38–55. Jan 2003. doi:10.1007/s000180300003. PMID 12613657.
- "Reduced amelogenin-MMP20 interactions in amelogenesis imperfecta". Journal of Dental Research 87 (5): 451–5. May 2008. doi:10.1177/154405910808700516. PMID 18434575.
- "Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations". Archives of Oral Biology 47 (4): 261–5. Apr 2002. doi:10.1016/S0003-9969(02)00003-1. PMID 11922869.
- "Typing of 48 autosomal SNPs and amelogenin with GenPlex SNP genotyping system in forensic genetics". Forensic Science International: Genetics 3 (1): 1–6. Dec 2008. doi:10.1016/j.fsigen.2008.06.007. PMID 19083859.
- "A nomenclature for X-linked amelogenesis imperfecta". Archives of Oral Biology 47 (4): 255–60. Apr 2002. doi:10.1016/S0003-9969(02)00005-5. PMID 11922868.
- "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. May 2006. doi:10.1111/j.1600-0722.2006.00301.x. PMID 16674683.
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