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Gene Symbol |
H6PD |
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Aliases |
CORTRD1, G6PDH, GDH, H6PDH |
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Entrez Gene ID |
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Gene Name |
Hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase |
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Chromosomal Location |
1p36.22 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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SNPs
| SNP Id |
Upstream Sequence |
SNP |
Downstream Sequence |
Functional Significance |
References |
| rs6688832 |
CGATTACTACGCCTACAGCCCTGTGC |
A/G |
GGAGCGGGACGCCCACTCCGTCCTC |
R453Q |
22306327 | |
| rs34603401 |
CGATTACTACGCCTACAGCCCTGTGC |
A/G |
GGAGCGGGACGCCCACTCCGTCCTC |
D151A |
22306327 | |
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| Protein Information |
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Protein Name |
GDH/6PGL endoplasmic bifunctional protein, 6-phosphogluconolactonase, G6PD, H form, glucose 1- dehydrogenase, glucose dehydrogenase, glucose dehyrogenase, glucose-6-phosphate dehydrogenase, salivary |
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Function |
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Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates |
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UniProt |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000416606 |
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P01225 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| Cortisone reductase deficiency |
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| PCOS |
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References |
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| PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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HSD11B1 |
CRD deficiency, PCOS |
H6PD R453Q variant and HSD11B1 83557insA |
NIH criteria |
Related
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116 PCOS and 76 controls |
The study found an association between H6PD R453Q variant and PCOS which might influence its phenotype by influencing adrenal activity |
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R453Q (rs6688832) and D151A (rs34603401) variants in H6PD |
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Related
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237 PCOS and 135 control |
the R453Q and D151A variants of the H6PD gene are associated with PCOS and obesity |
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Hyperandrogenemia |
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Related
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74 PCOS and 31controls |
H6PD gene is very polymorphic and missense variants are common, coding variants rarely (<1.5%) are responsible for hyperandrogenemic PCOS |
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HSD11B1 |
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CRD-related variants in HSD11B1 (rs12086634) and H6PD (rs6688832) |
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Related
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213 PCOS and 549 control |
variants in HSD11B1 and H6PD typed, though implicated in causation of CRD, do not influence susceptibility to PCOS |
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HSD11B1 |
CRD deficiency |
H6PD and HSD11B1 mutations |
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Related
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CRD defines a new ER-specific redox potential and establishes H6PDH as a potential factor in the pathogenesis of PCOS |
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