AMELX

Amelogenin, X isoform is a protein that in humans is encoded by the AMELX gene.^[3] AMELX is located on the X chromosome and encodes a set of isoforms of amelogenin by alternative splicing.^[4][5] Amelogenin is an extracellular matrix protein involved in the process of amelogenesis, the formation of enamel on teeth.

AMELX
Identifiers
Aliases	AMELX, AI1E, AIH1, ALGN, AMG, AMGL, AMGX, amelogenin, X-linked, amelogenin X-linked, Amelogenin, X isoform
External IDs	OMIM: 300391 HomoloGene: 36056 GeneCards: AMELX
Gene location (Human) Chr. X chromosome (human)^[1] Band Xp22.2 Start 11,293,413 bp^[1] End 11,300,761 bp^[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon optic nerve deltoid muscle lower lobe of lung tibialis anterior muscle temporal lobe amygdala kidney male reproductive gland prostate n/a More reference expression data BioGPS n/a
Gene ontology Molecular function structural constituent of tooth enamel protein binding hydroxyapatite binding identical protein binding growth factor activity Cellular component extracellular region cell surface endoplasmic reticulum lumen extracellular matrix collagen-containing extracellular matrix cytoplasm Golgi apparatus endocytic vesicle Biological process positive regulation of collagen biosynthetic process chondrocyte differentiation biomineral tissue development multicellular organism development odontogenesis of dentin-containing tooth cell adhesion tooth mineralization osteoblast differentiation epithelial to mesenchymal transition enamel mineralization signal transduction positive regulation of tooth mineralization regulation of cell population proliferation post-translational protein modification regulation of signaling receptor activity response to nutrient response to calcium ion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 265 n/a Ensembl ENSG00000125363 n/a UniProt Q99217 n/a RefSeq (mRNA) NM_001142 NM_182680 NM_182681 n/a RefSeq (protein) NP_001133 NP_872621 NP_872622 n/a Location (UCSC) Chr X: 11.29 – 11.3 Mb n/a PubMed search ^[2] n/a
Wikidata
View/Edit Human

Function

AMELX is involved in biomineralization during tooth enamel development.^[6] 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.^[7] It has been shown that mice with a knocked-out AMELX gene will present disorganized and hypoplastic enamel.^[8]

See also

• AMELY

References

1. GRCh38: Ensembl release 89: ENSG00000125363 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Entrez Gene: amelogenin (amelogenesis imperfecta 1".
4. "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.
5. 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.
6. 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.
7. 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.
8. Li Y, Suggs C, Wright JT, Yuan ZA, Aragon M, Fong H, Simmons D, Daly B, Golub EE, Harrison G, Kulkarni AB, Gibson CW (May 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.

External links

• Human AMELX genome location and AMELX gene details page in the UCSC Genome Browser.

Further reading

• 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 (May 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. S2CID 30444755.
• 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. S2CID 34174000.
• Tanimoto K, Le T, Zhu L, Witkowska HE, Robinson S, Hall S, Hwang P, Denbesten P, Li W (May 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 (May 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.