Background: | 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. |
UniProt Protein Function: | H6PD: Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates. Defects in H6PD are a cause of cortisone reductase deficiency (CRD). In CRD, activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS). |
UniProt Protein Details: | Protein type:Oxidoreductase; EC 3.1.1.31; EC 1.1.1.47; Carbohydrate Metabolism - pentose phosphate pathway; Hydrolase Chromosomal Location of Human Ortholog: 1p36 Disease: Cortisone Reductase Deficiency 1 |
NCBI Summary: | 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] |
UniProt Code: | O95479 |
NCBI GenInfo Identifier: | 108884809 |
NCBI Gene ID: | 9563 |
NCBI Accession: | O95479.2 |
UniProt Secondary Accession: | O95479,Q4TT33, Q66I35, Q68DT3, |
UniProt Related Accession: | O95479 |
Molecular Weight: | 88,893 Da |
NCBI Full Name: | GDH/6PGL endoplasmic bifunctional protein |
NCBI Synonym Full Names: | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase |
NCBI Official Symbol: | H6PD |
NCBI Official Synonym Symbols: | GDH; G6PDH; CORTRD1 |
NCBI Protein Information: | GDH/6PGL endoplasmic bifunctional protein |
UniProt Protein Name: | GDH/6PGL endoplasmic bifunctional protein |
UniProt Synonym Protein Names: | Glucose 1-dehydrogenase (EC:1.1.1.47)Alternative name(s):Hexose-6-phosphate dehydrogenase |
Protein Family: | GDH/6PGL endoplasmic bifunctional protein |
UniProt Gene Name: | H6PD |
UniProt Entry Name: | G6PE_HUMAN |