Glucose-6-phosphate dehydrogenase

  • CAS Number: 9001-40-5

Glucose -6-phosphate dehydrogenase ( alternative names: glucose -6-phosphate -1 - dehydrogenase; abbreviation: G6PD, G6PDH ) is present in all chordates enzyme that accomplishes the conversion of glucose -6-phosphate into 6- phosphogluconolactone. This chemical reaction is part of the pentose phosphate pathway in the metabolism. Mutations in the G6PD gene can lead to defects in the encoded enzyme, and thus to a G6PD deficiency.

G6PD is an enzyme from the group of oxidoreductases. It is a homodimeric or homotetrameric protein and comes in two isoforms: a short isoform with a molecular mass of 59 kDa and 514 amino acids, and a long isoform with 560 amino acids. The long isoform is found in lymphoblasts, granulocytes and sperm cells. The short isoform is found in the liver and especially in the red blood cells ( erythrocytes). Both isoforms bind NADP twice: once at the N -terminal end of the enzyme and co-factor (between amino acid 27 and 210) and once as a structural element of the C -terminal end.

Catalyzed reaction

NADP NADPH ⇒ / H

G6PD enzyme has the task ,5-lactone -6-phosphate (6- Phosphoglucono - δ -lactone ) to convert NADP to NADPH, to catalyze the reaction from glucose -6-phosphate to D -glucono -1.

A mutation of the glucose-6 -phosphate dehydrogenase gene ( G6PD ) gene on the X chromosome q28 portion ( Xq28 ) in humans ( DEHUG6 locus) of the disease leads to glucose-6 -phosphate dehydrogenase deficiency or also named favism.

Swell

Textbooks

  • Ohls RK, Christensen RC: Chapter 20 Diseases of the blood. In: Behrman RE, Kliegman RM, Jenson HB: Nelson Textbook of Pediatrics. 17th edition. Saunders, Philadelphia. May 2003. ISBN 0-7216-9556-6
  • Law M, Pearson HA: Chapter 295 Hemolytic Anemias. In: McMillan JA, Deangelis CD, Feigin RD, Warshaw JB, Oski FA: Oski 's Pediatrics: Principles and Practice. 3rd Edition. Lippincott Williams & Wilkins, June 1999. ISBN 0-7817-1618-7

Databases

  • Glucose-6 -phosphate dehydrogenase in Online Mendelian Inheritance in Man, Booth 21 July 2006.
  • EntrezProtein the National Center for Biotechnology Information ( NCBI), National Library of Medicine (NLM ), USA record 120731st the 19 September 2006. Use English.
  • SwissProt database, University of Geneva, Switzerland. Record P11413. Release 19 September 2006. Use English.
  • Human Gene Mutation Database ( HGMD ), Institute of Medical Genetics, Cardiff, UK Record G6PD. The 23 September 2006. Use English.
Protein isoform Human Genome Organisation CAS registry number 6-Phosphogluconolactone
269527
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