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GK  -  glycerol kinase

Homo sapiens

Synonyms: ATP:glycerol 3-phosphotransferase, GK1, GKD, Glycerokinase, Glycerol kinase
 
 
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Disease relevance of GK

 

Psychiatry related information on GK

 

High impact information on GK

 

Chemical compound and disease context of GK

  • Although Alu insertions have been implicated in other diseases, and a closely related AluY element is found as an insert in the C1 inhibitor gene in patients with hereditary angioedema, this is the first case of glycerol kinase deficiency caused by an Alu insertion [11].
  • After dissolution of the dried residues in water, the amount of triacylglycerols was quantified using Pseudomonas sp. lipase, glycerol kinase, glycerol-phosphate oxidase, and peroxidase [12].
 

Biological context of GK

 

Anatomical context of GK

 

Associations of GK with chemical compounds

 

Physical interactions of GK

 

Enzymatic interactions of GK

  • The DAX-1 gene was entirely deleted in a 3rd patient as well as in a 4th with the additional feature of glycerol kinase deficiency [26].
 

Regulatory relationships of GK

 

Other interactions of GK

 

Analytical, diagnostic and therapeutic context of GK

References

  1. Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita. Stuhrmann, M., Heilbronner, H., Reis, A., Wegner, R.D., Fischer, P., Schmidtke, J. Hum. Genet. (1991) [Pubmed]
  2. Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects. Hellerud, C., Burlina, A., Gabelli, C., Ellis, J.R., Nyholm, P.G., Lindstedt, S. Clin. Chem. Lab. Med. (2003) [Pubmed]
  3. Aquaporin-7 and glycerol permeability as novel obesity drug-target pathways. Frühbeck, G., Catalán, V., Gómez-Ambrosi, J., Rodríguez, A. Trends Pharmacol. Sci. (2006) [Pubmed]
  4. Isolation of the human Xp21 glycerol kinase gene by positional cloning. Walker, A.P., Muscatelli, F., Monaco, A.P. Hum. Mol. Genet. (1993) [Pubmed]
  5. Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients. Matsumoto, T., Kondoh, T., Yoshimoto, M., Fujieda, K., Matsuura, N., Matsuda, I., Miike, T., Yano, K., Okuno, A., Aoki, Y. Am. J. Med. Genet. (1988) [Pubmed]
  6. A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. van Ommen, G.J., Verkerk, J.M., Hofker, M.H., Monaco, A.P., Kunkel, L.M., Ray, P., Worton, R., Wieringa, B., Bakker, E., Pearson, P.L. Cell (1986) [Pubmed]
  7. Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia. McCabe, E.R., Towbin, J., Chamberlain, J., Baumbach, L., Witkowski, J., van Ommen, G.J., Koenig, M., Kunkel, L.M., Seltzer, W.K. J. Clin. Invest. (1989) [Pubmed]
  8. Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. Dunger, D.B., Davies, K.E., Pembrey, M., Lake, B., Pearson, P., Williams, D., Whitfield, A., Dillon, M.J. Lancet (1986) [Pubmed]
  9. Mutations and phenotype in isolated glycerol kinase deficiency. Walker, A.P., Muscatelli, F., Stafford, A.N., Chelly, J., Dahl, N., Blomquist, H.K., Delanghe, J., Willems, P.J., Steinmann, B., Monaco, A.P. Am. J. Hum. Genet. (1996) [Pubmed]
  10. Unraveling a bacterial hexose transport pathway. Herzberg, O., Klevit, R. Curr. Opin. Struct. Biol. (1994) [Pubmed]
  11. AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. Zhang, Y., Dipple, K.M., Vilain, E., Huang, B.L., Finlayson, G., Therrell, B.L., Worley, K., Deininger, P., McCabe, E.R. Hum. Mutat. (2000) [Pubmed]
  12. Lipase-based quantitation of triacylglycerols in cellular lipid extracts: requirement for presence of detergent and prior separation by thin-layer chromatography. Van Veldhoven, P.P., Swinnen, J.V., Esquenet, M., Verhoeven, G. Lipids (1997) [Pubmed]
  13. Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis. Hellerud, C., Adamowicz, M., Jurkiewicz, D., Taybert, J., Kubalska, J., Ciara, E., Popowska, E., Ellis, J.R., Lindstedt, S., Pronicka, E. Mol. Genet. Metab. (2003) [Pubmed]
  14. A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci. Romero, N.B., Récan, D., Rigal, O., Leturcq, F., Llense, S., Barbot, J.C., Deburgrave, N., Cheval, M.A., Deniau, F., Kaplan, J.C. Neuromuscul. Disord. (1997) [Pubmed]
  15. Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome. Davies, K.E., Patterson, M.N., Kenwrick, S.J., Bell, M.V., Sloan, H.R., Westman, J.A., Elsas, L.J., Mahan, J. Am. J. Med. Genet. (1988) [Pubmed]
  16. Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. Choi, J.H., Shin, Y.L., Kim, G.H., Kim, Y., Park, S., Park, J.Y., Oh, C., Yoo, H.W. Horm. Res. (2005) [Pubmed]
  17. Binding and function of mitochondrial glycerol kinase in comparison with those of mitochondrial hexokinase. Kaneko, M., Kurokawa, M., Ishibashi, S. Arch. Biochem. Biophys. (1985) [Pubmed]
  18. Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis. Hellerud, C., Wramner, N., Erikson, A., Johansson, A., Samuelson, G., Lindstedt, S. Acta Paediatr. (2004) [Pubmed]
  19. Isolation, mapping, and functional expression of the mouse X chromosome glycerol kinase gene. Huq, A.H., Lovell, R.S., Sampson, M.J., Decker, W.K., Dinulos, M.B., Disteche, C.M., Craigen, W.J. Genomics (1996) [Pubmed]
  20. Functional glycerol kinase activity and the possibility of a major role for glyceroneogenesis in mammalian skeletal muscle. Watford, M. Nutr. Rev. (2000) [Pubmed]
  21. Conserved family of glycerol kinase loci in Drosophila melanogaster. Martinez Agosto, J.A., McCabe, E.R. Mol. Genet. Metab. (2006) [Pubmed]
  22. Adenosine 5'-O-([gamma-18O]gamma-thio)triphosphate chiral at the gamma-phosphorus: stereochemical consequences of reactions catalyzed by pyruvate kinase, glycerol kinase, and hexokinase. Orr, G.A., Simon, J., Jones, S.R., Chin, G.J., Knowles, J.R. Proc. Natl. Acad. Sci. U.S.A. (1978) [Pubmed]
  23. 1-Thioglycerol: inhibitor of glycerol kinase activity in vitro and in situ. Seltzer, W.K., Dhariwal, G., Mckelvey, H.A., McCabe, E.R. Life Sci. (1986) [Pubmed]
  24. Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency. Tonoki, H., Fujieda, K., Kajii, N., Ozutsumi, K., Nagano, S., Niikawa, N. J. Pediatr. (1990) [Pubmed]
  25. Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane. Adams, V., Griffin, L., Towbin, J., Gelb, B., Worley, K., McCabe, E.R. Biochem. Med. Metab. Biol. (1991) [Pubmed]
  26. DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Kinoshita, E., Yoshimoto, M., Motomura, K., Kawaguchi, T., Mori, R., Baba, T., Nishijo, K., Hasegawa, T., Momoi, T., Yorihuji, T. Horm. Res. (1997) [Pubmed]
  27. The effects of thiazolidinedione treatment on the regulations of aquaglyceroporins and glycerol kinase in OLETF rats. Lee, D.H., Park, D.B., Lee, Y.K., An, C.S., Oh, Y.S., Kang, J.S., Kang, S.H., Chung, M.Y. Metab. Clin. Exp. (2005) [Pubmed]
  28. Arsenolipids. Dembitsky, V.M., Levitsky, D.O. Prog. Lipid Res. (2004) [Pubmed]
  29. Automated enzymatic measurement of lecithin, sphingomyelin, and phosphatidylglycerol in amniotic fluid. Bradley, C.A., Salhany, K.E., Entman, S.S., Aleshire, S.L., Parl, F.F. Clin. Chem. (1987) [Pubmed]
  30. Progressive high frequency hearing loss: an additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency. Zachmann, M., Fuchs, E., Prader, A. Eur. J. Pediatr. (1992) [Pubmed]
  31. Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia. Wibmer, T., Otto, J., Parhofer, K.G., Otto, C. Exp. Clin. Endocrinol. Diabetes (2005) [Pubmed]
  32. Targeted disruption of glycerol kinase gene in mice: expression analysis in liver shows alterations in network partners related to glycerol kinase activity. MacLennan, N.K., Rahib, L., Shin, C., Fang, Z., Horvath, S., Dean, J., Liao, J.C., McCabe, E.R., Dipple, K.M. Hum. Mol. Genet. (2006) [Pubmed]
  33. Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome. Børresen, A.L., Hellerud, C., Møller, P., Søvik, O., Berg, K. Clin. Genet. (1987) [Pubmed]
  34. Gene therapy for murine glycerol kinase deficiency: importance of murine ortholog. Kuwada, N., Nagano, K., MacLennan, N., Havens, J., Kumar, M., Dipple, K.M., McCabe, E.R. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
 
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