AMELX

Amelogenin, X-linked
Identifiers
Symbols	AMELX; AIH1; ALGN; AMG; AMGL; AMGX
External IDs	OMIM: 300391 MGI: 88005 HomoloGene: 36056 GeneCards: AMELX Gene
Gene Ontology Molecular function • protein binding • growth factor activity • structural constituent of tooth enamel • structural constituent of tooth enamel • identical protein binding • cell surface binding • hydroxyapatite binding Cellular component • extracellular region • proteinaceous extracellular matrix • extracellular matrix part Biological process • osteoblast differentiation • epithelial to mesenchymal transition • chondrocyte differentiation • cell adhesion • signal transduction • multicellular organismal development • cell proliferation • biomineral tissue development • positive regulation of collagen biosynthetic process • tooth mineralization • tooth mineralization • odontogenesis of dentine-containing tooth • ion homeostasis • enamel mineralization • positive regulation of tooth mineralization Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	265	11704
Ensembl	ENSG00000125363	ENSMUSG00000031354
UniProt	Q99217	P63277
RefSeq (mRNA)	NM_001142.2	NM_001081978
RefSeq (protein)	NP_001133.1	NP_033796
Location (UCSC)	Chr X: 11.31 – 11.32 Mb	Chr X: 165.61 – 165.63 Mb
PubMed search	[1]	[2]

Amelogenin, X isoform is a protein that in humans is encoded by the AMELX gene.

Amelogenin, X isoform is a form of amelogenin found on the X chromosome. Amelogenin X is a member of the amelogenin family of extracellular matrix proteins. When alternative splicing occurs it results in multiple transcript variants encoding different isoforms.

Function

AMELX is involved in biomineralization during tooth enamel development.

Clinical significance

Mutations in the AMELX gene can cause amelogenesis imperfecta, a disorder of tooth enamel development.

See also

• Amelogenin
• X chromosome
• AMELY

Further reading

• Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2665286. 
• Zhu L, Tanimoto K, Le T, et al. (2009). "Functional Roles of Prolines at Amelogenin C Terminal during Tooth Enamel Formation". Cells Tissues Organs (Print) 189 (1–4): 203–6. doi:10.1159/000151376. PMC 2824197. PMID 18701806. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2824197. 
• Lee SK, Seymen F, Kang HY, et al. (2010). "MMP20 hemopexin domain mutation in amelogenesis imperfecta". J. Dent. Res. 89 (1): 46–50. doi:10.1177/0022034509352844. PMID 19966041. 
• Sufliarska S, Minarik G, Horakova J, et al. (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, et al. (2009). "Rapid Communication 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2655232. 
• 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. 
• Deeley K, Letra A, Rose EK, et al. (2008). "Possible Association of Amelogenin to High Caries Experience in a Guatemalan-Mayan Population". Caries Res. 42 (1): 8–13. doi:10.1159/000111744. PMC 2814012. PMID 18042988. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2814012. 
• Kim JW, Simmer JP, Hu YY, et al. (2004). "Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta". J. Dent. Res. 83 (5): 378–83. doi:10.1177/154405910408300505. PMID 15111628. 
• Wright JT, Hart TC, Hart PS, et al. (2009). "Human and Mouse Enamel Phenotypes Resulting from Mutation or Altered Expression of AMEL, ENAM, MMP20 and KLK4". Cells Tissues Organs (Print) 189 (1–4): 224–9. doi:10.1159/000151378. PMC 2754863. PMID 18714142. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2754863. 
• Richard B, Delgado S, Gorry P, Sire JY (2007). "A study of polymorphism in human AMELX". Arch. Oral Biol. 52 (11): 1026–31. doi:10.1016/j.archoralbio.2007.06.001. PMID 17645864. 
• Patir A, Seymen F, Yildirim M, et al. (2008). "Enamel Formation Genes Are Associated with High Caries Experience in Turkish Children". Caries Res. 42 (5): 394–400. doi:10.1159/000154785. PMC 2820320. PMID 18781068. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2820320. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Veis A (2003). "Amelogenin gene splice products: potential signaling molecules". Cell. Mol. Life Sci. 60 (1): 38–55. doi:10.1007/s000180300003. PMID 12613657. 
• Tanimoto K, Le T, Zhu L, et al. (2008). "Reduced amelogenin-MMP20 interactions in amelogenesis imperfecta". J. Dent. Res. 87 (5): 451–5. doi:10.1177/154405910808700516. PMID 18434575. 
• Hart PS, Aldred MJ, Crawford PJ, et al. (2002). "Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations". Arch. Oral Biol. 47 (4): 261–5. doi:10.1016/S0003-9969(02)00003-1. PMID 11922869. 
• Tomas C, Stangegaard M, Børsting C, et al. (2008). "Typing of 48 autosomal SNPs and amelogenin with GenPlex SNP genotyping system in forensic genetics". Forensic Sci Int Genet 3 (1): 1–6. doi:10.1016/j.fsigen.2008.06.007. PMID 19083859. 
• Hart PS, Hart TC, Simmer JP, Wright JT (2002). "A nomenclature for X-linked amelogenesis imperfecta". Arch. Oral Biol. 47 (4): 255–60. doi:10.1016/S0003-9969(02)00005-5. PMID 11922868. 
• Deutsch D, Haze-Filderman A, Blumenfeld A, et al. (2006). "Amelogenin, a major structural protein in mineralizing enamel, is also expressed in soft tissues: brain and cells of the hematopoietic system". Eur. J. Oral Sci. 114 Suppl 1: 183–9; discussion 201–2, 381. doi:10.1111/j.1600-0722.2006.00301.x. PMID 16674683.