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

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

H6PD Protein Structure

G6PD_N

G6PD_N: Glucose-6-phosphate dehydrogenase, NAD binding domain (29 - 211)

G6PD_C

G6PD_C: Glucose-6-phosphate dehydrogenase, C-terminal domain (223 - 383)

Glucosamine_iso

Glucosamine_iso: Glucosamine-6-phosphate isomerases/6-phosphogluconolactonase (563 - 756)

  • 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

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