background:
H6PD (hexose-6-phosphate dehydrogenase, GDH/6PGL endoplasmic bifunctional protein) is a 789 amino acid protein encoded by the human gene H6PD. The N-terminal section of H6PD belongs to the glucose-6-phosphate dehydrogenase family, while the SLCterminal section belongs to the glucosamine/galactosamine-6-phosphate isomerase family, 6-phosphogluconolactonase subfamily. H6PD is responsible primarily for the oxidation of glucose-6-phosphate and glucose. It also oxidizes other hexose-6-phosphates. H6PD catalyzes the conversion of glucose 6-phosphate to 6-phosphogluconolactone within the lumen of the endoplasmic reticulum, thereby generating reduced nicotinamide adenine dinucleotide phosphate. Reduced nicotinamide adenine dinucleotide phosphate is a necessary cofactor for the reductase activity of 11∫-hydroxysteroid dehydrogenase type 1, which converts hormonally inactive cortisone to active cortisol (in rodents, 11-dehydrocorticosterone to corticosterone).
Function:
Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates.
Subcellular Location:
Endoplasmic reticulum lumen. Note=Microsomes, endoplasmic reticulum lumen.
Tissue Specificity:
Present in most tissues examined, strongest in liver.
DISEASE:
Defects in H6PD are a cause of cortisone reductase deficiency (CRD) [MIM:604931]. In CRD, activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS).
Similarity:
In the N-terminal section; belongs to the glucose-6-phosphate dehydrogenase family.
In the SLCterminal section; belongs to the glucosamine/galactosamine-6-phosphate isomerase family. 6-phosphogluconolactonase subfamily.
Database links:
Entrez Gene: 25796 Human
Entrez Gene: 9563 Human
Entrez Gene: 100198 Mouse
Entrez Gene: 66171 Mouse
Entrez Gene: 290636 Rat
Entrez Gene: 298655 Rat
Omim: 27690 Human
Omim: 604951 Human
SwissProt: O95336 Human
SwissProt: O95479 Human
SwissProt: Q8CFX1 Mouse
SwissProt: Q9CQ60 Mouse
SwissProt: P85971 Rat
Unigene: 463511 Human
Unigene: 466165 Human
Unigene: 22183 Mouse
Unigene: 282284 Mouse
Unigene: 402679 Mouse
Unigene: 17292 Rat
Unigene: 19855 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|