Glucose-6-phosphate dehydrogenase

Glucose-6-phosphate dehydrogenase
	Existing structural data: s. UniProt
Properties of human protein
Mass / length primary structure	514/560 amino acids
Secondary to quaternary structure	Homodimer, homotetramer
Cofactor	NADP
Isoforms	Short, long
Identifier
Gene name	G6PD
External IDs	OMIM : 305900 ; UniProt : P11413 ; CAS number : 9001-40-5;
Enzyme classification
EC, category	1.1.1.49 , oxidoreductase
Response type	Dehydrogenation
Substrate	D-glucose-6-phosphate + NADP +
Products	D-glucono-1,5-lactone-6-phosphate + NADPH + H +
Occurrence
Homology family	GP6D
Parent taxon	Chordates
	Orthologue

The glucose-6-phosphate dehydrogenase (alternative name: glucose-6-phosphate-1-dehydrogenase ; abbreviation: G6PD , G6PDH ) is in all chordates known enzyme that catalyzes the conversion of glucose-6-phosphate into 6-phosphogluconolactone accomplished . This chemical reaction is part of the pentose phosphate pathway in 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 occurs in two isoforms : a short isoform with a molar 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 as a cofactor (between amino acids 27 and 210) and once as a structural element at the C-terminal end.

Catalyzed reaction

+ NADP ⁺ ⇒ + NADPH / H ⁺

The task of the enzyme G6PD is to catalyze the reaction from glucose-6-phosphate to D-glucono-1,5-lactone-6-phosphate (6-phosphoglucono-δ-lactone) with conversion of NADP ⁺ to NADPH .

Mutation of the glucose-6-phosphate dehydrogenase gene (G6PD) gene in section q28 of chromosome X (Xq28) in humans (DEHUG6 locus) leading to the disorder of the 6-phosphate dehydrogenase deficiency, glucose or favism named .

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Textbooks

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

Databases

Glucose-6-phosphate dehydrogenase. In: Online Mendelian Inheritance in Man . (English), as of July 21, 2006.
Entrez protein from the National Center for Biotechnology Information (NCBI), National Library of Medicine (NLM), USA record 120731 . As of September 19, 2006. Information in English .
SwissProt database, University of Geneva, Switzerland. Data record P11413 . As of September 19, 2006. Information in English .

Human Gene Mutation Database (HGMD), Institute of Medical Genetics, Cardiff, UK data set G6PD . As of September 23, 2006. Information in English .

Web links

Wikibooks: Biochemistry and Pathobiochemistry: Hexose Monophosphate Pathway - Learning and Teaching Materials

Private homepage on the G6PD deficiency ( Memento from October 8, 2007 in the Internet Archive )