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Gene Review

MAMLD1  -  mastermind-like domain containing 1

Homo sapiens

Synonyms: CG1, CXorf6, F18, HYSP2, Mastermind-like domain-containing protein 1, ...
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Disease relevance of CXorf6

  • CXorf6 is a causative gene for hypospadias [1].
  • Each group was compared to an historical control group constituted retrospectively according to the following criteria: oligohydramnios (CG1), particulate meconium-stained amniotic fluid (CG2), age, parity, gestational age and duration of labor [2].
  • Breast cancer cells that expressed F18 also formed smaller and far fewer colonies in soft agar culture than did the cells that did not express F18 [3].
  • Exogenous fibronectin also stimulated TSP1-dependent binding of F18 to melanoma cells [4].
  • Seven patients had classic metabolism-flow mismatches consistent with ischemia (that is, decreased N-13 ammonia uptake in a region with relatively increased F-18 fluorodeoxyglucose uptake) [5].

Psychiatry related information on CXorf6

  • We identified three different nonsense mutations of CXorf6 in individuals with hypospadias and found that its mouse homolog was specifically expressed in fetal Sertoli and Leydig cells around the critical period for sex development [1].

High impact information on CXorf6


Chemical compound and disease context of CXorf6


Biological context of CXorf6

  • CXorf6, which have been implicated in male sexual development, was not entirely deleted in this boy, resulting in the fusion with the MTMR1 gene [12].
  • Strains F18 and HB101 had no effect on transepithelial electrical resistance (TER) of T84 monolayers [13].
  • In this study, adhesion domains of FedF were further studied by constructing deletions within the fedF gene and expressing FedF proteins with deletions either together with the other F18 fimbrial subunits or as fusion proteins tagged with maltose binding protein [14].
  • On the other hand, the motion of lipid analog, F18, was not changed at cell fusion stage [15].
  • Direct sequencing of the two ORFs in swine being either susceptible or resistant to adhesion and colonization by F18 fimbriated Escherichia coli (ECF18) revealed two polymorphisms at bp 307 (M307) and bp 857 (M857) of the FUT1 ORF [16].

Anatomical context of CXorf6


Associations of CXorf6 with chemical compounds


Analytical, diagnostic and therapeutic context of CXorf6


  1. CXorf6 is a causative gene for hypospadias. Fukami, M., Wada, Y., Miyabayashi, K., Nishino, I., Hasegawa, T., Camerino, G., Kretz, C., Buj-Bello, A., Laporte, J., Yamada, G., Morohashi, K., Ogata, T. Nat. Genet. (2006) [Pubmed]
  2. Prophylactic intrapartum amnioinfusion: a controlled retrospective study of 135 cases. De Meeus, J.B., D'Halluin, G., Bascou, V., Ellia, F., Magnin, G. Eur. J. Obstet. Gynecol. Reprod. Biol. (1997) [Pubmed]
  3. Constitutive activation of insulin receptor substrate 1 is a frequent event in human tumors: therapeutic implications. Chang, Q., Li, Y., White, M.F., Fletcher, J.A., Xiao, S. Cancer Res. (2002) [Pubmed]
  4. Conformational regulation of the fibronectin binding and alpha 3beta 1 integrin-mediated adhesive activities of thrombospondin-1. Rodrigues, R.G., Guo , N., Zhou, L., Sipes, J.M., Williams, S.B., Templeton, N.S., Gralnick, H.R., Roberts, D.D. J. Biol. Chem. (2001) [Pubmed]
  5. Dynamic positron tomographic imaging with nitrogen-13 glutamate in patients with coronary artery disease: comparison with nitrogen-13 ammonia and fluorine-18 fluorodeoxyglucose imaging. Krivokapich, J., Barrio, J.R., Huang, S.C., Schelbert, H.R. J. Am. Coll. Cardiol. (1990) [Pubmed]
  6. Perceived loss of memory ability and cerebral metabolic decline in persons with the apolipoprotein E-IV genetic risk for Alzheimer disease. Ercoli, L., Siddarth, P., Huang, S.C., Miller, K., Bookheimer, S.Y., Wright, B.C., Phelps, M.E., Small, G. Arch. Gen. Psychiatry (2006) [Pubmed]
  7. Positron emission tomography measurement of cerebral metabolic correlates of tryptophan depletion-induced depressive relapse. Bremner, J.D., Innis, R.B., Salomon, R.M., Staib, L.H., Ng, C.K., Miller, H.L., Bronen, R.A., Krystal, J.H., Duncan, J., Rich, D., Price, L.H., Malison, R., Dey, H., Soufer, R., Charney, D.S. Arch. Gen. Psychiatry (1997) [Pubmed]
  8. A smart magnetic resonance contrast agent for selective copper sensing. Que, E.L., Chang, C.J. J. Am. Chem. Soc. (2006) [Pubmed]
  9. Prediction of recovery of myocardial dysfunction after revascularization. Comparison of fluorine-18 fluorodeoxyglucose/thallium-201 SPECT, thallium-201 stress-reinjection SPECT and dobutamine echocardiography. Bax, J.J., Cornel, J.H., Visser, F.C., Fioretti, P.M., van Lingen, A., Reijs, A.E., Boersma, E., Teule, G.J., Visser, C.A. J. Am. Coll. Cardiol. (1996) [Pubmed]
  10. Assessment of viable myocardium by dobutamine transesophageal echocardiography and comparison with fluorine-18 fluorodeoxyglucose positron emission tomography. Baer, F.M., Voth, E., Deutsch, H.J., Schneider, C.A., Schicha, H., Sechtem, U. J. Am. Coll. Cardiol. (1994) [Pubmed]
  11. Biosynthesis of furan fatty acids (F-acids) by a marine bacterium, Shewanella putrefaciens. Shirasaka, N., Nishi, K., Shimizu, S. Biochim. Biophys. Acta (1997) [Pubmed]
  12. Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism. Tsai, T.C., Horinouchi, H., Noguchi, S., Minami, N., Murayama, K., Hayashi, Y.K., Nonaka, I., Nishino, I. Neuromuscul. Disord. (2005) [Pubmed]
  13. Novel effects of the prototype translocating Escherichia coli, strain C25 on intestinal epithelial structure and barrier function. Zareie, M., Riff, J., Donato, K., McKay, D.M., Perdue, M.H., Soderholm, J.D., Karmali, M., Cohen, M.B., Hawkins, J., Sherman, P.M. Cell. Microbiol. (2005) [Pubmed]
  14. Mapping the binding domain of the F18 fimbrial adhesin. Smeds, A., Pertovaara, M., Timonen, T., Pohjanvirta, T., Pelkonen, S., Palva, A. Infect. Immun. (2003) [Pubmed]
  15. Lateral motion of fluorescent molecules embedded into cell membranes of clonal myogenic cells, L6, changes upon cell maturation. Kawasaki, Y., Wakayama, N., Seto-Ohshima, A. FEBS Lett. (1988) [Pubmed]
  16. Two alpha(1,2) fucosyltransferase genes on porcine chromosome 6q11 are closely linked to the blood group inhibitor (S) and Escherichia coli F18 receptor (ECF18R) loci. Meijerink, E., Fries, R., Vögeli, P., Masabanda, J., Wigger, G., Stricker, C., Neuenschwander, S., Bertschinger, H.U., Stranzinger, G. Mamm. Genome (1997) [Pubmed]
  17. Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. Laporte, J., Kioschis, P., Hu, L.J., Kretz, C., Carlsson, B., Poustka, A., Mandel, J.L., Dahl, N. Genomics (1997) [Pubmed]
  18. Evaluation of myocardial ischemia using a rest metabolism/stress perfusion protocol with fluorine-18 deoxyglucose/technetium-99m MIBI and dual-isotope simultaneous-acquisition single-photon emission computed tomography. Sandler, M.P., Videlefsky, S., Delbeke, D., Patton, J.A., Meyerowitz, C., Martin, W.H., Ohana, I. J. Am. Coll. Cardiol. (1995) [Pubmed]
  19. Positron emission tomographic measurements of absolute regional myocardial blood flow permits identification of nonviable myocardium in patients with chronic myocardial infarction. Gewirtz, H., Fischman, A.J., Abraham, S., Gilson, M., Strauss, H.W., Alpert, N.M. J. Am. Coll. Cardiol. (1994) [Pubmed]
  20. Myocardial viability in asynergic regions subtended by occluded coronary arteries: relation to the status of collateral flow in patients with chronic coronary artery disease. Di Carli, M., Sherman, T., Khanna, S., Davidson, M., Rokhsar, S., Hawkins, R., Phelps, M., Schelbert, H., Maddahi, J. J. Am. Coll. Cardiol. (1994) [Pubmed]
  21. Quantitative evaluation of regional substrate metabolism in the human heart by positron emission tomography. Hicks, R.J., Herman, W.H., Kalff, V., Molina, E., Wolfe, E.R., Hutchins, G., Schwaiger, M. J. Am. Coll. Cardiol. (1991) [Pubmed]
  22. Effects of a controlled family-based health education/counseling intervention. Salminen, M., Vahlberg, T., Ojanlatva, A., Kivelä, S.L. American journal of health behavior. (2005) [Pubmed]
  23. Specificity and sensitivity of exercise-induced ST segment elevation for detection of residual viability: comparison with fluorodeoxyglucose and positron emission tomography. Margonato, A., Chierchia, S.L., Xuereb, R.G., Xuereb, M., Fragasso, G., Cappelletti, A., Landoni, C., Lucignani, G., Fazio, F. J. Am. Coll. Cardiol. (1995) [Pubmed]
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