H6pd - hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) Gene
Also Known as Gpd1; G6pd1; Gpd-1
Species: Mus musculus
Summary
Enables 6-phosphogluconolactonase activity and glucose-6-phosphate dehydrogenase activity. Involved in regulation of cortisol biosynthetic process. Acts upstream of or within pentose-phosphate shunt. Located in sarcoplasmic reticulum. Is expressed in alimentary system; cranium; facial bone primordium; liver; and tooth. Human ortholog(s) of this gene implicated in cortisone reductase deficiency; cortisone reductase deficiency 1; and multiple sclerosis. Orthologous to human H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase). [provided by Alliance of Genome Resources, Apr 2022]
H6pd Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001291004.1 | NP_001277933.1 | GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor |
| NM_173371.4 | NP_775547.2 | GDH/6PGL endoplasmic bifunctional protein isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables 6-phosphogluconolactonase activity |
IDA
IDA: Inferred from direct assay
|
12831846 | MGI |
| enables glucose-6-phosphate dehydrogenase activity |
IDA
IDA: Inferred from direct assay
|
12831846 | MGI |
| enables glucose-6-phosphate dehydrogenase activity |
IMP
IMP: Inferred from mutant phenotype
|
18222920 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within pentose-phosphate shunt |
IDA
IDA: Inferred from direct assay
|
12831846 | MGI |
| involved in regulation of cortisol biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
16356929 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in endoplasmic reticulum |
IMP
IMP: Inferred from mutant phenotype
|
18222920 | MGI |
| is active in sarcoplasmic reticulum |
IMP
IMP: Inferred from mutant phenotype
|
18222920 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
GDH/6PGL endoplasmic bifunctional protein |
|