Skip to main content
SpringerLink
Log in

Identification, purification and genetic deficiencies of the glucose-6-phosphatase system transport proteins

  • Biochemistry of Glucose-6-Phosphatase system and diagnosis
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

Hepatic microsomal glucose-6-phosphatase (Glc-6-P'ase) is a complex multicomponent system containing at least three transport proteins, in addition to the catalytic subunit and a Ca2+ binding regulatory protein. The transport proteins have been designated T1 the glucose-6-phosphate transport protein, T2 a phosphate/pyrophosphate transport protein and T3 a glucose transport protein. Diagnosis of the genetic deficiencies of these transport proteins at present requires a complex kinetic analysis of the Glc-6-P'ase system as a whole. Here we describe the progress to date in our attempts to identify, purify and clone each transport protein with the ultimate aim of isolating specific cDNA probes for each transport protein which can be used for the diagnosis of types 1b, 1c and the putative 1d glycogen storage diseases.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Abbreviations

ER:

endoplasmic reticulum

Glc:

glucose

Glc-6-P:

glucose-6-phosphate

Glc-6-P'ase:

glucose-6-phosphatase

GSD:

glycogen storage disease

PPi :

pyrophosphate

T1 :

the glucose-6-phosphate transport protein

T2 :

the phosphate/pyrophosphate transport protein

T3 :

the hepatic microsomal glucose transport protein

References

  1. Ananthanarananan M, Dippe P von, Levy D (1988) Identification of the hepatocyte Na+ dependent bile acid transport protein using monoclonal antibodies. J Biol Chem 263:8338–8363

    PubMed  Google Scholar 

  2. Arion WJ, Lange AJ, Walls HE, Ballas LM (1980) Evidence of the participation of independent translocases for phosphate and glucose-6-phosphate in the microsomal glucose-6-phosphatase system. J Biochem 244:10393–10406

    Google Scholar 

  3. Bell GI, Kayano T, Buse JB, Bivant CF, Tabeda J, Lin D, Fukumoto H, Seino S (1990) Molecular biology of mammalian glucose transporters. Diabetes Care 13:198–208

    PubMed  Google Scholar 

  4. Bialek DS, Sharp HL, Kane WJ, Elders J, Nordlie RC (1977) Latency of glucose-6-phosphatase in type 1b glycogen storage disease. J Paediatr 91:838

    Google Scholar 

  5. Burchell A (1990) Molecular pathology of glucose-6-phosphatase. FASEB J 4:2978–2988

    PubMed  Google Scholar 

  6. Burchell A, Waddell ID (1990) Genetic deficiencies of the hepatic microsomal glucose-6-phosphatase system. In: Randle P, Bell J, Scott J (eds) Genetics and human nutrition. J Libby and Co, London, pp 93–110

    Google Scholar 

  7. Burchell A, Waddell ID (1991) The molecular basis of the hepatic microsomal glucose-6-phosphatase system. Biochem Biophys Acta 1092:129–137

    PubMed  Google Scholar 

  8. Burchell A, Jung RT, Lang CC, Bennet W, Shepherd AN (1987) Diagnosis of type 1a and type 1c glycogen storage diseases in adults. Lancet I:1059–1062

    Google Scholar 

  9. Burchell A, Waddell ID, Countaway JL, Arion WJ, Hume R (1988) Identification of the human hepatic microsomal glucose-6-phosphatase enzyme. FEBS Lett 242:153–156

    PubMed  Google Scholar 

  10. Burchell A, Waddell ID, Stewart L, Hume R (1989) Perinatal diagnosis of type 1c glycogen storage disease. J Inherited Metab Dis 12 [Suppl 2]:31–317

    Google Scholar 

  11. Burchell A, Bell JE, Busuttil A, Hume R (1989) Hepatic microsomal glucose-6-phosphatase system and sudden infant death syndrome. Lancet II:291–294

    Google Scholar 

  12. Ciaraldi TP, Horur R, Natthaei S (1986) Biochemical and functional characterisation of the rat liver glucose transport system. Biochem J 240:115–123

    PubMed  Google Scholar 

  13. Countaway JL, Arion WJ (1986) G-6-P transport activity in liver microsomes exposed to stilbene disulfonate derivatives. Fed Proc 46:1758

    Google Scholar 

  14. Countaway JL, Waddell ID, Burchell A, Arion WJ (1988) The phosphohydrolase component of the hepatic microsomal glucose-6-phosphatase system is a 36.5 kilodalton polypeptide. J Biol Chem 263:2673–2678

    PubMed  Google Scholar 

  15. Lange AJ, Arion WJ, Beaudet AL (1980) Type 1b glycogen storage disease is caused by a defect in the glucose-6-phosphatase system. J Biol Chem 225:8381–8384

    Google Scholar 

  16. Narisawa K, Igarashi Y, Otomo H, Tada K (1978) A new variant of glycogen storage disease type 1 probably due to a defect in the glucose-6-phosphatase transport system. Biochem Biopys Res Commun 83:1360–1364

    Google Scholar 

  17. Nordlie RC, Stepanik PA, Taxinger RR (1986) Comparative reactivity of carbamyl phosphate and glucose-6-phosphatase of intact microsomes. Biochem Biophys Acta 881:300–304

    PubMed  Google Scholar 

  18. Nordlie RC, Sukalski KA, Munoz JM, Baldwin JJ (1983) Type 1c: a novel glycogenesis. J Biol Chem 258:9739–9744

    PubMed  Google Scholar 

  19. Sukalski KA, Nordlie RC (1989) Glucose-6-phosphatase: two concepts of membrane function. Adv Enzymol 62:93–117

    PubMed  Google Scholar 

  20. Waddell ID, Lindsay JG, Burchell A (1988) The identification of T2 the phosphate/pyrophosphate transport protein of the hepatic microsomal glucose-6-phosphatase system. FEBS Lett 229:179–182

    PubMed  Google Scholar 

  21. Waddell ID, Hume R, Burchell A (1989) A direct method for the diagnosis of human hepatic type 1b and type 1c glycogen storage disease. Clin Sci 76:573–579

    PubMed  Google Scholar 

  22. Waddell ID, Scott H, Grant A, Burchell A (1990) Identification and characterisation of a rat hepatic microsomal glucose transport protein. Biochem J 275:363–367

    Google Scholar 

  23. Wedton LA, Kadner RJ (1987) Role of uhp genes in expression of theE. coli sugar phosphate transport system. J Bacterial 170:3375–3383

    Google Scholar 

  24. Zoccoli MA, Hooper RR, Karnovsky ML (1982) Identification of a rat live microsomal polypepetide involved in the transport of G-6-P. J Biol Chem 257:3919–3924

    PubMed  Google Scholar 

  25. Zoccoli MA, Karnovsky ML (1980) Effect of two inhibitors of anion transport o the hydrolyis of G-6-P by rat liver microsomes. J Biol Chem 255:1113–1119

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Child Health, University of Dundee Medical School, Ninewells Hospital, DD1 9SY, Dundee, Scotland, UK

    I. D. Waddell

  2. Department of Obstetrics and Gynaecology, University of Dundee Medical School, Ninewells Hospital, DD1 9SY, Dundee, Scotland, UK

    A. Burchell

Authors
  1. I. D. Waddell
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. A. Burchell
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Waddell, I.D., Burchell, A. Identification, purification and genetic deficiencies of the glucose-6-phosphatase system transport proteins. Eur J Pediatr 152 (Suppl 1), 14–17 (1993). https://doi.org/10.1007/BF02072081

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02072081

Key words

Search

Navigation