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Gene Review

ZWS1  -  Zellweger syndrome 1

Homo sapiens

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Disease relevance of ZWS1


Psychiatry related information on ZWS1


High impact information on ZWS1


Chemical compound and disease context of ZWS1


Biological context of ZWS1

  • In a structured follow-up cohort of 25 patients with PBD, not including ZS, three patients had an unusual pattern of cerebral white matter disease with onset past the age of 1, not conforming to any of the classic PBD phenotypes [15].
  • A CG-I ZS patient (PBDE-04) possessed compound heterozygous, inactivating mutations: a missense point mutation resulting in Leu-664 --> Pro and a deletion of the sequence from Gly-634 to His-690 presumably caused by missplicing (splice site mutation) [16].
  • The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported [17].
  • Peroxisome-biogenesis disorders (PBDs), including Zellweger syndrome (ZS), are autosomal recessive diseases caused by a deficiency in peroxisome assembly as well as by a malfunction of peroxisomes, among which>10 genotypes have been identified [18].
  • A patient with an atypical Zellweger syndrome had a missense mutation that was shown to disrupt the cell's ability to form peroxisomes [19].

Anatomical context of ZWS1


Associations of ZWS1 with chemical compounds


Regulatory relationships of ZWS1


Other interactions of ZWS1


Analytical, diagnostic and therapeutic context of ZWS1


  1. Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders. Imamura, A., Tamura, S., Shimozawa, N., Suzuki, Y., Zhang, Z., Tsukamoto, T., Orii, T., Kondo, N., Osumi, T., Fujiki, Y. Hum. Mol. Genet. (1998) [Pubmed]
  2. Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype. Maxwell, M., Bjorkman, J., Nguyen, T., Sharp, P., Finnie, J., Paterson, C., Tonks, I., Paton, B.C., Kay, G.F., Crane, D.I. Mol. Cell. Biol. (2003) [Pubmed]
  3. Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders. Suzuki, Y., Shimozawa, N., Imamura, A., Fukuda, S., Zhang, Z., Orii, T., Kondo, N. J. Inherit. Metab. Dis. (2001) [Pubmed]
  4. Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. Shimozawa, N., Nagase, T., Takemoto, Y., Ohura, T., Suzuki, Y., Kondo, N. Am. J. Med. Genet. A (2003) [Pubmed]
  5. Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. Wanders, R.J., Saelman, D., Heymans, H.S., Schutgens, R.B., Westerveld, A., Poll-Thé, B.T., Saudubray, J.M., Van den Bosch, H., Strijland, A., Schram, A.W. N. Engl. J. Med. (1986) [Pubmed]
  6. The ether lipid-deficient mouse: Tracking down plasmalogen functions. Gorgas, K., Teigler, A., Komljenovic, D., Just, W.W. Biochim. Biophys. Acta (2006) [Pubmed]
  7. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. Portsteffen, H., Beyer, A., Becker, E., Epplen, C., Pawlak, A., Kunau, W.H., Dodt, G. Nat. Genet. (1997) [Pubmed]
  8. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Gärtner, J., Moser, H., Valle, D. Nat. Genet. (1992) [Pubmed]
  9. The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. Moser, A.E., Singh, I., Brown, F.R., Solish, G.I., Kelley, R.I., Benke, P.J., Moser, H.W. N. Engl. J. Med. (1984) [Pubmed]
  10. Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes. Datta, N.S., Wilson, G.N., Hajra, A.K. N. Engl. J. Med. (1984) [Pubmed]
  11. A comparative study of straight chain and branched chain fatty acid oxidation in skin fibroblasts from patients with peroxisomal disorders. Singh, H., Usher, S., Johnson, D., Poulos, A. J. Lipid Res. (1990) [Pubmed]
  12. Peroxisomal L-pipecolic acid oxidation is deficient in liver from Zellweger syndrome patients. Mihalik, S.J., Moser, H.W., Watkins, P.A., Danks, D.M., Poulos, A., Rhead, W.J. Pediatr. Res. (1989) [Pubmed]
  13. Unsuccessful attempts to induce peroxisomes in two cases of Zellweger disease by treatment with clofibrate. Björkhem, I., Blomstrand, S., Glaumann, H., Strandvik, B. Pediatr. Res. (1985) [Pubmed]
  14. Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders. Poll-The, B.T., Skjeldal, O.H., Stokke, O., Poulos, A., Demaugre, F., Saudubray, J.M. Hum. Genet. (1989) [Pubmed]
  15. Late onset white matter disease in peroxisome biogenesis disorder. Barth, P.G., Gootjes, J., Bode, H., Vreken, P., Majoie, C.B., Wanders, R.J. Neurology (2001) [Pubmed]
  16. Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. Tamura, S., Okumoto, K., Toyama, R., Shimozawa, N., Tsukamoto, T., Suzuki, Y., Osumi, T., Kondo, N., Fujiki, Y. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  17. Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7. Naritomi, K., Izumikawa, Y., Ohshiro, S., Yoshida, K., Shimozawa, N., Suzuki, Y., Orii, T., Hirayama, K. Hum. Genet. (1989) [Pubmed]
  18. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. Honsho, M., Tamura, S., Shimozawa, N., Suzuki, Y., Kondo, N., Fujiki, Y. Am. J. Hum. Genet. (1998) [Pubmed]
  19. Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders. Zhang, Z., Suzuki, Y., Shimozawa, N., Fukuda, S., Imamura, A., Tsukamoto, T., Osumi, T., Fujiki, Y., Orii, T., Wanders, R.J., Barth, P.G., Moser, H.W., Paton, B.C., Besley, G.T., Kondo, N. Hum. Mutat. (1999) [Pubmed]
  20. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H.W., Suzuki, Y., Kondo, N., Fujiki, Y. Am. J. Hum. Genet. (2003) [Pubmed]
  21. Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome). Heymans, H.S., Schutgens, R.B., Tan, R., van den Bosch, H., Borst, P. Nature (1983) [Pubmed]
  22. The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. Steinberg, S., Chen, L., Wei, L., Moser, A., Moser, H., Cutting, G., Braverman, N. Mol. Genet. Metab. (2004) [Pubmed]
  23. Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects. Mayatepek, E., Ferdinandusse, S., Meissner, T., Wanders, R.J. Clin. Chim. Acta (2004) [Pubmed]
  24. In vivo and vitro studies on formation of bile acids in patients with Zellweger syndrome. Evidence that peroxisomes are of importance in the normal biosynthesis of both cholic and chenodeoxycholic acid. Kase, B.F., Pedersen, J.I., Strandvik, B., Björkhem, I. J. Clin. Invest. (1985) [Pubmed]
  25. Metabolism of prostaglandin F2 alpha in Zellweger syndrome. Peroxisomal beta-oxidation is a major importance for in vivo degradation of prostaglandins in humans. Diczfalusy, U., Kase, B.F., Alexson, S.E., Björkhem, I. J. Clin. Invest. (1991) [Pubmed]
  26. Properties of the enzymes catalyzing the biosynthesis of lysophosphatidate and its ether analog in cultured fibroblasts from Zellweger syndrome patients and normal controls. Webber, K.O., Datta, N.S., Hajra, A.K. Arch. Biochem. Biophys. (1987) [Pubmed]
  27. Histochemistry of peroxisomal enzyme activities: a tool in the diagnosis of Zellweger syndrome. Frederiks, W.M., Bosch, K.S., Ankum, M., Wanders, R.J. J. Inherit. Metab. Dis. (1993) [Pubmed]
  28. Topology of catalase assembly in human skin fibroblasts. Middelkoop, E., Wiemer, E.A., Schoenmaker, D.E., Strijland, A., Tager, J.M. Biochim. Biophys. Acta (1993) [Pubmed]
  29. Assay for L-pipecolate oxidase activity in human liver: detection of enzyme deficiency in hyperpipecolic acidaemia. Rao, V.V., Chang, Y.F. Biochim. Biophys. Acta (1992) [Pubmed]
  30. The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. Matsumoto, N., Tamura, S., Fujiki, Y. Nat. Cell Biol. (2003) [Pubmed]
  31. PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G. Ghaedi, K., Honsho, M., Shimozawa, N., Suzuki, Y., Kondo, N., Fujiki, Y. Am. J. Hum. Genet. (2000) [Pubmed]
  32. Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. Fukuda, S., Shimozawa, N., Suzuki, Y., Zhang, Z., Tomatsu, S., Tsukamoto, T., Hashiguchi, N., Osumi, T., Masuno, M., Imaizumi, K., Kuroki, Y., Fujiki, Y., Orii, T., Kondo, N. Am. J. Hum. Genet. (1996) [Pubmed]
  33. Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. Clayton, P.T., Patel, E., Lawson, A.M., Carruthers, R.A., Collins, J. J. Clin. Invest. (1990) [Pubmed]
  34. Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts. Aikawa, J., Chen, W.W., Kelley, R.I., Tada, K., Moser, H.W., Chen, G.L. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  35. The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. Mosser, J., Lutz, Y., Stoeckel, M.E., Sarde, C.O., Kretz, C., Douar, A.M., Lopez, J., Aubourg, P., Mandel, J.L. Hum. Mol. Genet. (1994) [Pubmed]
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