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Gene Review

AMELX  -  amelogenin, X-linked

Homo sapiens

Synonyms: AI1E, AIH1, ALGN, AMG, AMGL, ...
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Disease relevance of AMELX


Psychiatry related information on AMELX

  • At effective doses, AMG 9810 did not show any significant effects on motor function, as measured by open field locomotor activity and motor coordination tests [6].
  • The AMG is a picture-based measure that combines features of the Thematic Apperception Test (TAT; Murray, 1943) with features of self-report questionnaires [7].

High impact information on AMELX

  • Transport of beta-D-Glc-IPM and glucose by SAAT1 is apparently performed by the same mechanism because similar sodium dependence, dependence on membrane potential, electrogenicity, and phlorizin inhibition were determined for beta-D-Glc-IPM, D-glucose, and AMG [8].
  • We have isolated genomic and cDNA clones from both the AMGX and AMGY loci and have studied the sequence organization of these two genes [9].
  • AMG 706 was well tolerated and had no significant effects on body weight or on the general health of the animals [10].
  • Histologic analysis of tumor xenografts from AMG 706-treated animals revealed an increase in endothelial apoptosis and a reduction in blood vessel area that preceded an increase in tumor cell apoptosis [10].
  • Moreover, the sensitivity of CD44-induced adhesion to AMG and H7, which both prevent the activation of protein kinase C, and to cytochalasin B, which inhibits microfilament formation, suggests that the activation of the LFA-1 pathway via CD44 involves protein kinase C activation and requires an intact cytoskeleton [11].

Chemical compound and disease context of AMELX

  • A "plasmid-curing effect" of multiresistant Escherichia coli by flavophospholipol, an antibiotic used as an antimicrobial growth promoter (AMGP) in animal feeds, has been reported to occur in vitro and in vivo under experimental conditions [12].
  • In vivo, AMG 9810 is effective at preventing capsaicin-induced eye wiping in a dose-dependent manner, and it reverses thermal and mechanical hyperalgesia in a model of inflammatory pain induced by intraplantar injection of complete Freund's adjuvant [6].
  • Two ongoing large, randomized, placebo-controlled studies will prospectively define fracture outcomes in men with prostate cancer and assess the efficacy of novel pharmacologic interventions (AMG 162, toremifene) in GnRH-agonist-treated men [13].

Biological context of AMELX


Anatomical context of AMELX

  • Three types of multidrug-resistant Escherichia coli isolates, called GEN S, GEN R, and AMG S, according to their three different aminoglycoside resistance patterns, were responsible for urinary tract colonization or infection in 87, 12, and 13 new patients, respectively, in a French 650-bed geriatric hospital over a 13-month period [19].
  • The prevalence and degree (proportion of resistant strains to the total numbers present per gram of feces) of resistance of indicator bacteria, E. coli and enterococci, was determined in fecal samples from three groups of pigs that were fed a commercial finisher feed without any AMGP [12].
  • BACKGROUND/AIMS: We have reported quantitative and qualitative differences in bone marrow (BM) progenitor cells in autoimmune hepatitis type-1 (AIH-1) and primary biliary cirrhosis (PBC) [20].
  • We studied the motion perception of a patient, AMG, who had a lesion in the left occipital lobe centered on visual areas V3 and V3A, with involvement of underlying white matter [21].
  • METHODS: HDL3 and albumin-mediated cholesterol efflux was measured in mouse peritoneal macrophages and in SR-BI transfected cells that had been treated along time with dicarbonyl sugars or AGE-albumin, both in the presence or in the absence of AMG and MF [22].

Associations of AMELX with chemical compounds

  • At membrane potentials between -50 and -150 mV, a 10-fold higher substrate affinity (Km approximately 0.25 mM) and a 10-fold lower Vmax value were estimated for beta-D-Glc-IPM transport than for the transport of D-glucose or methyl-alpha-D-glucopyranoside (AMG) [8].
  • Herein we provide a brief overview of recent reported clinical results for AMG 548, BIRB 796, VX 702, SCIO 469, and SCIO 323 [23].
  • Phlorizin (1 mM) inhibits AMG uptake by 30 to 40% [24].
  • Group A was the negative control group without any AMGP, group B received the same feed with 9 mg of flavophospholipol/kg of feed (study group), and group C received the same feed with 15 mg of avoparcin/kg (positive control) [12].
  • Some rats were pretreated with aminoguanidine (AMG, 50 mg/Kg BW in drinking water) before the procedure [25].

Enzymatic interactions of AMELX


Regulatory relationships of AMELX

  • To date, 12 allelic AMELX mutations have been described that purportedly result in markedly different expressed amelogenin protein products [27].

Other interactions of AMELX

  • Alternatively, multiple amelogenins may arise by expression of both the AMELX and AMELY loci [28].
  • Although X-linked, autosomal dominant and autosomal recessive forms of AI have been clinically characterized, only two genes (AMELX and ENAM) have been associated with AI [29].
  • Polymerase chain reaction amplification of AMGX and AMGY was successful using genomic DNA from both tumour and normal control tissue in 24 of the 26 cases [3].
  • Linkage analysis has shown that there is genetic hetetogeneity in X-linked amelogenesis imperfecta with two identified loci: AIH1 and AIH3 [30].
  • 3. End-sequencing and database analysis revealed a YAC insert of at least 416 kb containing the genes HCCS and AMELX, and exons 2-16 of ARHGAP6 [31].

Analytical, diagnostic and therapeutic context of AMELX


  1. Refined quantitative fluorescent PCR of Y-chromosome DNA sequences mosaics in Turner's syndrome patients--alternative to real-time PCR. Vodicka, R., Vrtel, R., Scheinost, O., Zapletalova, J., Dusek, L., Marie, G., Santavy, J. J. Biochem. Biophys. Methods (2004) [Pubmed]
  2. Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta. Ravassipour, D.B., Powell, C.M., Phillips, C.L., Hart, P.S., Hart, T.C., Boyd, C., Wright, J.T. Arch. Oral Biol. (2005) [Pubmed]
  3. Amelogenin dosage compensation in carcinoma of colon, lung, liver and kidney, is not a marker of clonality in males. Zvejnieks, P.A., Tellschow, S.R., Gudlaugsson, E.G., Markham, N., Shroyer, K.R. Mol. Cell. Probes (1998) [Pubmed]
  4. Transgenic Mice that Express Normal and Mutated Amelogenins. Gibson, C.W., Yuan, Z.A., Li, Y., Daly, B., Suggs, C., Aragon, M.A., Alawi, F., Kulkarni, A.B., Wright, J.T. J. Dent. Res. (2007) [Pubmed]
  5. Analysis of amelogenin gene (AMGX, AMGY) expression in ameloblastoma. Tsujigiwa, H., Nagatsuka, H., Han, P.P., Gunduz, M., Siar, C.H., Oida, S., Nagai, N. Oral Oncol. (2005) [Pubmed]
  6. AMG 9810 [(E)-3-(4-t-butylphenyl)-N-(2,3-dihydrobenzo[b][1,4] dioxin-6-yl)acrylamide], a novel vanilloid receptor 1 (TRPV1) antagonist with antihyperalgesic properties. Gavva, N.R., Tamir, R., Qu, Y., Klionsky, L., Zhang, T.J., Immke, D., Wang, J., Zhu, D., Vanderah, T.W., Porreca, F., Doherty, E.M., Norman, M.H., Wild, K.D., Bannon, A.W., Louis, J.C., Treanor, J.J. J. Pharmacol. Exp. Ther. (2005) [Pubmed]
  7. Validity of a short form of the Achievement-Motive Grid (AMG-S): evidence for the three-factor structure emphasizing active and passive forms of fear of failure. Schmalt, H.D. Journal of personality assessment. (2005) [Pubmed]
  8. Transport of the new chemotherapeutic agent beta-D-glucosylisophosphoramide mustard (D-19575) into tumor cells is mediated by the Na+-D-glucose cotransporter SAAT1. Veyhl, M., Wagner, K., Volk, C., Gorboulev, V., Baumgarten, K., Weber, W.M., Schaper, M., Bertram, B., Wiessler, M., Koepsell, H. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  9. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Salido, E.C., Yen, P.H., Koprivnikar, K., Yu, L.C., Shapiro, L.J. Am. J. Hum. Genet. (1992) [Pubmed]
  10. AMG 706, an Oral, Multikinase Inhibitor that Selectively Targets Vascular Endothelial Growth Factor, Platelet-Derived Growth Factor, and Kit Receptors, Potently Inhibits Angiogenesis and Induces Regression in Tumor Xenografts. Polverino, A., Coxon, A., Starnes, C., Diaz, Z., Demelfi, T., Wang, L., Bready, J., Estrada, J., Cattley, R., Kaufman, S., Chen, D., Gan, Y., Kumar, G., Meyer, J., Neervannan, S., Alva, G., Talvenheimo, J., Montestruque, S., Tasker, A., Patel, V., Radinsky, R., Kendall, R. Cancer Res. (2006) [Pubmed]
  11. Triggering of the CD44 antigen on T lymphocytes promotes T cell adhesion through the LFA-1 pathway. Koopman, G., van Kooyk, Y., de Graaff, M., Meyer, C.J., Figdor, C.G., Pals, S.T. J. Immunol. (1990) [Pubmed]
  12. Effects of flavophospholipol on resistance in fecal Escherichia coli and enterococci of fattening pigs. van den Bogaard, A.E., Hazen, M., Hoyer, M., Oostenbach, P., Stobberingh, E.E. Antimicrob. Agents Chemother. (2002) [Pubmed]
  13. Therapy Insight: osteoporosis during hormone therapy for prostate cancer. Smith, M.R. Nature clinical practice. Urology. (2005) [Pubmed]
  14. Genetic heterogeneity in X-linked amelogenesis imperfecta. Aldred, M.J., Crawford, P.J., Roberts, E., Gillespie, C.M., Thomas, N.S., Fenton, I., Sandkuijl, L.A., Harper, P.S. Genomics (1992) [Pubmed]
  15. Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. Kim, J.W., Simmer, J.P., Hu, Y.Y., Lin, B.P., Boyd, C., Wright, J.T., Yamada, C.J., Rayes, S.K., Feigal, R.J., Hu, J.C. J. Dent. Res. (2004) [Pubmed]
  16. Human developing enamel proteins exhibit a sex-linked dimorphism. Fincham, A.G., Bessem, C.C., Lau, E.C., Pavlova, Z., Shuler, C., Slavkin, H.C., Snead, M.L. Calcif. Tissue Int. (1991) [Pubmed]
  17. A nomenclature for X-linked amelogenesis imperfecta. Hart, P.S., Hart, T.C., Simmer, J.P., Wright, J.T. Arch. Oral Biol. (2002) [Pubmed]
  18. Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations. Hart, P.S., Aldred, M.J., Crawford, P.J., Wright, N.J., Hart, T.C., Wright, J.T. Arch. Oral Biol. (2002) [Pubmed]
  19. Emergence and spread of three clonally related virulent isolates of CTX-M-15-producing Escherichia coli with variable resistance to aminoglycosides and tetracycline in a French geriatric hospital. Leflon-Guibout, V., Jurand, C., Bonacorsi, S., Espinasse, F., Guelfi, M.C., Duportail, F., Heym, B., Bingen, E., Nicolas-Chanoine, M.H. Antimicrob. Agents Chemother. (2004) [Pubmed]
  20. Markers of cell activation and apoptosis in bone marrow mononuclear cells of patients with autoimmune hepatitis type 1 and primary biliary cirrhosis. Tsikrikoni, A., Kyriakou, D.S., Rigopoulou, E.I., Alexandrakis, M.G., Zachou, K., Passam, F., Dalekos, G.N. J. Hepatol. (2005) [Pubmed]
  21. Can spatial and temporal motion integration compensate for deficits in local motion mechanisms? Vaina, L.M., Gryzwacz, N.M., Saiviroonporn, P., LeMay, M., Bienfang, D.C., Cowey, A. Neuropsychologia. (2003) [Pubmed]
  22. Aminoguanidine and metformin prevent the reduced rate of HDL-mediated cell cholesterol efflux induced by formation of advanced glycation end products. Machado, A.P., Pinto, R.S., Moysés, Z.P., Nakandakare, E.R., Quintão, E.C., Passarelli, M. Int. J. Biochem. Cell Biol. (2006) [Pubmed]
  23. MAP kinase p38 inhibitors: clinical results and an intimate look at their interactions with p38alpha protein. Lee, M.R., Dominguez, C. Current medicinal chemistry. (2005) [Pubmed]
  24. Expression of glucose transporters in human peritoneal mesothelial cells. Schröppel, B., Fischereder, M., Wiese, P., Segerer, S., Huber, S., Kretzler, M., Heiss, P., Sitter, T., Schlöndorff, D. Kidney Int. (1998) [Pubmed]
  25. Retinal ischemia and reperfusion causes capillary degeneration: similarities to diabetes. Zheng, L., Gong, B., Hatala, D.A., Kern, T.S. Invest. Ophthalmol. Vis. Sci. (2007) [Pubmed]
  26. Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis. Franco, E., Hodgson, S., Lench, N., Roberts, G.J. Oral diseases. (1995) [Pubmed]
  27. Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. Wright, J.T., Hart, P.S., Aldred, M.J., Seow, K., Crawford, P.J., Hong, S.P., Gibson, C.W., Hart, T.C. Connect. Tissue Res. (2003) [Pubmed]
  28. Isolation and partial characterization of a human amelogenin from a single fetal dentition using HPLC techniques. Fincham, A.G., Hu, Y.Y., Lau, E., Pavlova, Z., Slavkin, H.C., Snead, M.L. Calcif. Tissue Int. (1990) [Pubmed]
  29. Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. Hart, P.S., Michalec, M.D., Seow, W.K., Hart, T.C., Wright, J.T. Arch. Oral Biol. (2003) [Pubmed]
  30. Molecular biology of hereditary enamel defects. Aldred, M.J., Crawford, P.J. Ciba Found. Symp. (1997) [Pubmed]
  31. Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp. Kutsche, K., Werner, W., Bartsch, O., von der Wense, A., Meinecke, P., Gal, A. Cytogenet. Genome Res. (2002) [Pubmed]
  32. Amelogenin cross-amplification in the family Bovidae and its application for sex determination. Weikard, R., Pitra, C., Kühn, C. Mol. Reprod. Dev. (2006) [Pubmed]
  33. Autosomal localization of the amelogenin gene in monotremes and marsupials: implications for mammalian sex chromosome evolution. Watson, J.M., Spencer, J.A., Graves, J.A., Snead, M.L., Lau, E.C. Genomics (1992) [Pubmed]
  34. A single-dose placebo-controlled study of AMG 162, a fully human monoclonal antibody to RANKL, in postmenopausal women. Bekker, P.J., Holloway, D.L., Rasmussen, A.S., Murphy, R., Martin, S.W., Leese, P.T., Holmes, G.B., Dunstan, C.R., DePaoli, A.M. J. Bone Miner. Res. (2004) [Pubmed]
  35. Pharmacodynamics and pharmacokinetics of AMG 531, a novel thrombopoietin receptor ligand. Wang, B., Nichol, J.L., Sullivan, J.T. Clin. Pharmacol. Ther. (2004) [Pubmed]
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