H6PD - hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase Gene

Homo sapiens

Also known as GDH; G6PDH; H6PDH; CORTRD1

Gene ID: 9563 | Gene type: protein coding

About H6PD

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:9,234,774-9,271,337 (from NCBI)

This gene has 3 transcripts (splice variants), 198 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 12.8), skin (RPKM 11.6) and 25 other tissues.

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]

H6PD Products(2)

mRNA	Protein	Name
NM_001282587.2	NP_001269516.1	GDH/6PGL endoplasmic bifunctional protein isoform 1 precursor
NM_004285.4	NP_004276.2	GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables glucose-6-phosphate dehydrogenase activity	IDA IDA: Inferred from direct assay	18628520	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in pentose-phosphate shunt, oxidative branch	IMP IMP: Inferred from mutant phenotype	18628520	GOA
involved in regulation of cortisol biosynthetic process	IMP IMP: Inferred from mutant phenotype	18628520	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum lumen	IDA IDA: Inferred from direct assay	18628520	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

H6PD Protein Structure

G6PD_N

G6PD_C

Glucosamine_iso

0
200
400
600
791 a.a.

Protein Preferred Names

Protein Names

GDH/6PGL endoplasmic bifunctional protein

6-phosphogluconolactonase

Related Diseases

Diseases

Alias

Cortisone Reductase Deficiency 1

CORTRD1

Cortisone Reductase Deficiency, Type 1

Cortisone Reductase Deficiency

11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency Of	Cortrd
Hsd 11b1 Deficiency

Hyperandrogenism Due To Cortisone Reductase Deficiency

11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 1

Glucosephosphate Dehydrogenase Deficiency

G6pd Deficiency	Glucose-6-Phosphate Dehydrogenase Deficiency
Deficiency Of Glucose-6-Phosphate Dehydrogenase	Glucose 6 Phosphate Dehydrogenase Deficiency
Deficiency Of G-6pd	G6pdd

Parotitis

Scleromalacia Perforans

Type 2 Diabetes Mellitus

Insulin Resistance	NIDDM
Type 2 Diabetes	Diabetes Mellitus, Non-Insulin-Dependent
T2D	Noninsulin-Dependent Diabetes Mellitus
Diabetes Mellitus, Type Ii	Maturity-Onset Diabetes
Insulin Resistance, Severe, Digenic	Diabetes Mellitus, Type 2
Diabetes Mellitus, Noninsulin-Dependent	Diabetes Mellitus, Noninsulin-Dependent, Association With
Diabetes Mellitus, Noninsulin-Dependent, Late Onset	Hypertension, Insulin Resistance-Related, Susceptibility To
Insulin Resistance, Susceptibility To	Non-Insulin-Dependent Diabetes Mellitus
Type Ii Diabetes Mellitus	Adult-Onset Diabetes Mellitus
Maturity-Onset Diabetes Mellitus	Diabetes Mellitus Type 2
Type Ii Diabetes	Type 2 Diabetes Mellitus, Susceptibility To
Diabetes, Type 2	Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 2, Susceptibility To
Diabetes Mellitus, Noninsulin-Dependent, 2	Diabetes Mellitus, Type Ii, Susceptibility To
Hypertension, Insulin Resistance-Related	Adult-Onset Diabetes
Aodm	Diabetes Mellitus, Adult-Onset
Diabetes Mellitus Type Ii	Diabetes Mellitus Type 2, Susceptibility To
Diabetes, Type Ii, Susceptibility To	Diabetes Type 2
Diabetes Mellitus	Adult Onset Diabetes
Maturity Onset Diabetes	Nonketotic Diabetes
Non-Insulin Dependent Diabetes Mellitus	T2dm - [Type 2 Diabetes Mellitus]
Niddm - [Non Insulin Dependent Diabetes Mellitus]	Dm2
Dm Type Ii	Diabetic Type 2
Insulin Requiring Type 2 Diabetes	Noninsulin Dependent Diabetes
Non-Insulin-Dependent Diabetes Mellitus Without Complications	Diabetes Due To Insulin Secretory Defect
Diabetes Mellitus Due To Insulin Secretory Defect	Non-Insulin-Dependent Diabetes Of The Young
Senile Diabetes	Nonketotic Hyperglycaemia
Stable Diabetes

Diabetes Mellitus

Diabetes

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-10617A	Rucaparib	Inhibitor	99.97%	Yes
HY-10617	Rucaparib phosphate	Inhibitor	99.76%	Yes
HY-102003	Rucaparib monocamsylate	Inhibitor	99.82%	Yes
HY-102003A	Rucaparib camsylate	Inhibitor	/	Unkown
HY-10617C	Rucaparib tartrate	Inhibitor	/	Unkown
HY-10617B	Rucaparib hydrochloride	Inhibitor	/	Unkown
HY-10617D	Rucaparib acetate	Inhibitor	/	Unkown

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05980	H6PD Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	H6PD	VGNC	VGNC:73340
Rattus norvegicus	H6PD	RGD	RGD:1306562
Mus musculus	H6PD	MGD	MGI:2140356
Felis catus	H6PD	VGNC	VGNC:67529
Canis familiaris	H6PD	VGNC	VGNC:41579

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