Aliases for H6PD Gene
External Ids for H6PD Gene
Previous HGNC Symbols for H6PD Gene
Previous GeneCards Identifiers for H6PD Gene
There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]
GeneCards Summary for H6PD Gene
H6PD (Hexose-6-Phosphate Dehydrogenase/Glucose 1-Dehydrogenase) is a Protein Coding gene. Diseases associated with H6PD include Cortisone Reductase Deficiency 1 and Hyperandrogenism Due To Cortisone Reductase Deficiency. Among its related pathways are Carbon metabolism and Pentose phosphate pathway. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and glucose-6-phosphate dehydrogenase activity. An important paralog of this gene is G6PD.
UniProtKB/Swiss-Prot Summary for H6PD Gene
Bifunctional enzyme localized in the lumen of the endoplasmic reticulum that catalyzes the first two steps of the oxidative branch of the pentose phosphate pathway/shunt, an alternative to glycolysis and a major source of reducing power and metabolic intermediates for biosynthetic processes (By similarity). Has a hexose-6-phosphate dehydrogenase activity, with broad substrate specificity compared to glucose-6-phosphate 1-dehydrogenase/G6PD, and catalyzes the first step of the pentose phosphate pathway (PubMed:12858176, PubMed:18628520, PubMed:23132696). In addition, acts as a 6-phosphogluconolactonase and catalyzes the second step of the pentose phosphate pathway (By similarity). May have a dehydrogenase activity for alternative substrates including glucosamine 6-phosphate and glucose 6-sulfate (By similarity). The main function of this enzyme is to provide reducing equivalents such as NADPH to maintain the adequate levels of reductive cofactors in the oxidizing environment of the endoplasmic reticulum (PubMed:12858176, PubMed:18628520, PubMed:23132696). By producing NADPH that is needed by reductases of the lumen of the endoplasmic reticulum like corticosteroid 11-beta-dehydrogenase isozyme 1/HSD11B1, indirectly regulates their activity (PubMed:18628520).