6-phosphogluconate dehydrogenase deficiency
| 6-phosphogluconate dehydrogenase deficiency | |
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| Crystallographic structure of sheep 6-phosphogluconate dehydrogenase complexed with adenosine 2'-monophosphate. | |
| Classification and external resources | |
| Specialty | hematology |
| ICD-10 | D55.0 |
| OMIM | 172200 |
| 6-phosphogluconate dehydrogenase | |||||||||
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| Identifiers | |||||||||
| Symbol | 6PGD | ||||||||
| Pfam | PF00393 | ||||||||
| Pfam clan | CL0106 | ||||||||
| InterPro | IPR006114 | ||||||||
| PROSITE | PDOC00390 | ||||||||
| SCOP | 2pgd | ||||||||
| SUPERFAMILY | 2pgd | ||||||||
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| Available protein structures: | |
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| Pfam | structures |
| PDB | RCSB PDB; PDBe; PDBj |
| PDBsum | structure summary |
6-Phosphogluconate dehydrogenase deficiency (6PGD deficiency), or partial deficiency, is an autosomal hereditary disease characterized by abnormally low levels of 6-Phosphogluconate dehydrogenase (6PGD), a metabolic enzyme involved in the Pentose phosphate pathway. It is very important in the metabolism of red blood cells (erythrocytes). 6PDG deficiency affects less than 1% of the population, and studies suggest that there may be race variant involved in many of the reported cases. Although it is similar, 6PDG deficiency is not linked to glucose-6-phosphate dehydrogenase deficiency, as they are located on different chromosomes. However, a few people have had both of these metabolic diseases.
6PGD deficiency is a recessive hereditary disorder located on the P arm of chromosome 1. It is an autosomal disease, not associated with the sex chromosomes and can affect both sexes. The lack of synthesis of a specific protein on chromosome 1 has reduced a subject suffering from 6PGD deficiency from producing adequate amounts of the 6-Phosphogluconate dehydrogenase enzyme. Transfer of the disease can be passed from a parent, even when the parent is asymptomatic.
6-Phosphogluconate dehydrogenase (6PGD) is an enzyme in the pentose phosphate pathway (see image). 6PGD catalyzes the reaction of 6-phosphogluconate to an unstable form of 3-keto-6-phosphogluconate, and yields a co-enzyme nicotinamide adenine dinucleotide phosphate (NADPH) as a byproduct. NADPH supplies reducing power to cells. The reaction is the second NADPH releasing reaction in the pentose phosphate pathway, the first being catalyzed by glucose-6-phosphate dehydrogenase. 3-keto-6-phosphogluconate then rapidly (in an irreversible reaction) decarboxylates to CO₂ and ribulose-5-phosphate, which is the precursor to many vital metabolic processes.
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