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Gene Review

PGL2  -  paraganglioma or familial glomus tumors 2

Homo sapiens

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Disease relevance of PGL2


High impact information on PGL2

  • Genetic linkage analysis in two large, unrelated Dutch families assigned PGL loci to two regions of chromosome 11, at 11q23 (PGL1) and 11q13.1 (PGL2) [2].
  • Although the oligosaccharide structures of both PGL1 and PGL2 have previously been found in other organisms, the presence of a choline phosphate group as an oligosaccharide substituent is the first finding in nature [3].
  • In addition, a fourth locus, PGL2, has been mapped to chromosome 11q13 in an isolated family [4].
  • This double-blinded, randomized, placebo-controlled study was undertaken to investigate whether D-003 (20 mg/day) modifies serum levels of TxB2 and Pgl2 and inhibits platelet aggregation in human healthy volunteers [5].

Biological context of PGL2

  • Loss of chromosome 11 regions, including the deletion of PGL1 and PGL2 loci, may result in a more severe phenotype, as exemplified by the development of multiple tumors in one of the patients [6].

Associations of PGL2 with chemical compounds


  1. Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. Carney, J.A., Stratakis, C.A. Am. J. Med. Genet. (2002) [Pubmed]
  2. Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23. Baysal, B.E., Farr, J.E., Rubinstein, W.S., Galus, R.A., Johnson, K.A., Aston, C.E., Myers, E.N., Johnson, J.T., Carrau, R., Kirkpatrick, S.J., Myssiorek, D., Singh, D., Saha, S., Gollin, S.M., Evans, G.A., James, M.R., Richard, C.W. Am. J. Hum. Genet. (1997) [Pubmed]
  3. Polar glycosphingolipids in annelida. A novel series of glycosphingolipids containing choline phosphate from the earthworm, Pheretima hilgendorf. Sugita, M., Fujii, H., Inagaki, F., Suzuki, M., Hayata, C., Hori, T. J. Biol. Chem. (1992) [Pubmed]
  4. SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology. Douwes Dekker, P.B., Hogendoorn, P.C., Kuipers-Dijkshoorn, N., Prins, F.A., van Duinen, S.G., Taschner, P.E., van der Mey, A.G., Cornelisse, C.J. J. Pathol. (2003) [Pubmed]
  5. Effects of d-003, a new substance purified from sugar cane wax, on platelet aggregation and plasma levels of arachidonic acid metabolites in healthy volunteers. Arruzazabala, M.L., Mas, R., Molina, V., Carbajal, D., Fernández, L., Illnait, J., Castaño, G., Fernández, J., Mendoza, S. International journal of clinical pharmacology research. (2004) [Pubmed]
  6. Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. Riemann, K., Sotlar, K., Kupka, S., Braun, S., Zenner, H.P., Preyer, S., Pfister, M., Pusch, C.M., Blin, N. Cancer Genet. Cytogenet. (2004) [Pubmed]
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