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ALX4  -  ALX homeobox 4

Homo sapiens

 
 
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Disease relevance of ALX4

 

High impact information on ALX4

 

Chemical compound and disease context of ALX4

 

Biological context of ALX4

  • The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500) [7].
  • Starting from a BAC/P1/cosmid contig of the DEFECT 11 region on chromosome 11, we have now isolated the ALX4 gene, a previously unidentified member of the ALX homeobox gene family in humans [7].
  • Mutation analysis of the ALX4 gene in three unrelated FPP families without the MSX2 mutation identified mutations in two families, indicating that mutations in ALX4 could be responsible for these skull defects and suggesting further genetic heterogeneity of FPP [7].
  • To evaluate the reliability of the measurements of left and right ventricular functions with QBS, we performed QBS, as well as first-pass pool (FPP) and ECG-gated blood-pool (GBP) studies on planar images in 41 patients and 8 healthy volunteers [8].
  • The biogenesis of these JHs requires the synthesis of ethyl-substituted farnesyl diphosphate (FPP) by FPP synthase (FPPS) [9].
 

Anatomical context of ALX4

 

Associations of ALX4 with chemical compounds

  • The corresponding synthases (FPP synthase [FPPS] and GGPP synthase [GGPPS]) catalyze, respectively, the addition of two and three isopentenyl diphosphate molecules to dimethylallyl diphosphate [4].
  • Identification of peroxisomal targeting signals in cholesterol biosynthetic enzymes. AA-CoA thiolase, hmg-coa synthase, MPPD, and FPP synthase [12].
  • Their activity is compared to that of the previously described catalyst 2-formyl-4-pyrrolidinopyridine (FPP), which contains an aldehyde at the 2-position of the pyridine [13].
  • The catalysts which contain ketones at the 2-position range in reactivity from 10 times slower to slightly faster than FPP, and certain of these are much more selective for the methanolysis of hydroxy esters than FPP [13].
  • Reintroduction of the serine at position 531 into MxpSS2 by site-directed mutagenesis restored EbetaF synthase activity (K(m) for FPP 0.98+/-0.12 muM, k(cat) 0.1 s(-1)), demonstrating the crucial role of this residue in the enzyme activity [6].
 

Other interactions of ALX4

  • Similarly, the presence of biparietal foramina has been shown to be associated with the deletion of ALX4 located proximally to EXT2 [14].
 

Analytical, diagnostic and therapeutic context of ALX4

References

  1. Aristaless-like Homeobox-4 Gene Methylation Is a Potential Marker for Colorectal Adenocarcinomas. Ebert, M.P., Model, F., Mooney, S., Hale, K., Lograsso, J., Tonnes-Priddy, L., Hoffmann, J., Csepregi, A., R??cken, C., Molnar, B., Schulz, H.U., Malfertheiner, P., Lofton-Day, C. Gastroenterology (2006) [Pubmed]
  2. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Mavrogiannis, L.A., Antonopoulou, I., Baxová, A., Kutílek, S., Kim, C.A., Sugayama, S.M., Salamanca, A., Wall, S.A., Morriss-Kay, G.M., Wilkie, A.O. Nat. Genet. (2001) [Pubmed]
  3. Alx4 binding to LEF-1 regulates N-CAM promoter activity. Boras, K., Hamel, P.A. J. Biol. Chem. (2002) [Pubmed]
  4. Maize cDNAs expressed in endosperm encode functional farnesyl diphosphate synthase with geranylgeranyl diphosphate synthase activity. Cervantes-Cervantes, M., Gallagher, C.E., Zhu, C., Wurtzel, E.T. Plant Physiol. (2006) [Pubmed]
  5. Purification and characterization of recombinant human farnesyl diphosphate synthase expressed in Escherichia coli. Ding, V.D., Sheares, B.T., Bergstrom, J.D., Ponpipom, M.M., Perez, L.B., Poulter, C.D. Biochem. J. (1991) [Pubmed]
  6. Cloning and functional characterisation of a cis-muuroladiene synthase from black peppermint (Menthaxpiperita) and direct evidence for a chemotype unable to synthesise farnesene. Prosser, I.M., Adams, R.J., Beale, M.H., Hawkins, N.D., Phillips, A.L., Pickett, J.A., Field, L.M. Phytochemistry (2006) [Pubmed]
  7. The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). Wuyts, W., Cleiren, E., Homfray, T., Rasore-Quartino, A., Vanhoenacker, F., Van Hul, W. J. Med. Genet. (2000) [Pubmed]
  8. Evaluation of right and left ventricular function by quantitative blood-pool SPECT (QBS): comparison with conventional methods and quantitative gated SPECT (QGS). Odagiri, K., Wakabayashi, Y., Tawarahara, K., Kurata, C., Urushida, T., Katoh, H., Satoh, H., Hayashi, H. Annals of nuclear medicine (2006) [Pubmed]
  9. Characterization and tissue-specific expression of two lepidopteran farnesyl diphosphate synthase homologs: implications for the biosynthesis of ethyl-substituted juvenile hormones. Cusson, M., B??liveau, C., Sen, S.E., Vandermoten, S., Rutledge, R.G., Stewart, D., Francis, F., Haubruge, E., Rehse, P., Huggins, D.J., Dowling, A.P., Grant, G.H. Proteins (2006) [Pubmed]
  10. Opposing regulation of interleukin-8 and NF-kappaB responses by lipoxin A4 and serum amyloid A via the common lipoxin A receptor. Sodin-Semrl, S., Spagnolo, A., Mikus, R., Barbaro, B., Varga, J., Fiore, S. International journal of immunopathology and pharmacology. (2004) [Pubmed]
  11. Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation. Antonopoulou, I., Mavrogiannis, L.A., Wilkie, A.O., Morriss-Kay, G.M. J. Anat. (2004) [Pubmed]
  12. Identification of peroxisomal targeting signals in cholesterol biosynthetic enzymes. AA-CoA thiolase, hmg-coa synthase, MPPD, and FPP synthase. Olivier, L.M., Kovacs, W., Masuda, K., Keller, G.A., Krisans, S.K. J. Lipid Res. (2000) [Pubmed]
  13. Enhanced selectivities for the hydroxyl-directed methanolysis of esters using the 2-acyl-4-aminopyridine class of acyl transfer catalysts: ketones as binding sites. Sammakia, T., Hurley, T.B. J. Org. Chem. (2000) [Pubmed]
  14. Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. Hall, C.R., Wu, Y., Shaffer, L.G., Hecht, J.T. Clin. Genet. (2001) [Pubmed]
  15. Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. Wu, Y.Q., Badano, J.L., McCaskill, C., Vogel, H., Potocki, L., Shaffer, L.G. Am. J. Hum. Genet. (2000) [Pubmed]
  16. The bovine aristaless-like homeobox 4 (ALX4) as a candidate gene for syndactyly. W??hlke, A., Kuiper, H., Distl, O., Dr??gem??ller, C. Cytogenet. Genome Res. (2006) [Pubmed]
  17. A prospective observational trial of pelvic floor muscle training for female stress urinary incontinence. Balmforth, J.R., Mantle, J., Bidmead, J., Cardozo, L. BJU Int. (2006) [Pubmed]
  18. Rationale for the utilization of bonded nonmetal onlays as an alternative to PFM crowns. Ruiz, J.L., Christensen, G.J. Dentistry today. (2006) [Pubmed]
 
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