H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase)

2003-05-01  

Identity

HGNC
LOCATION
1p36.22
LOCUSID
ALIAS
CORTRD1,G6PDH,GDH,H6PDH
FUSION GENES

Other Information

Locus ID:

NCBI: 9563
MIM: 138090
HGNC: 4795
Ensembl: ENSG00000049239

Variants:

dbSNP: 9563
ClinVar: 9563
TCGA: ENSG00000049239
COSMIC: H6PD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000049239ENST00000377403O95479
ENSG00000049239ENST00000602477R4GMU1

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Pentose phosphate pathwayKEGGko00030
Pentose phosphate pathwayKEGGhsa00030
Metabolic pathwaysKEGGhsa01100
Pentose phosphate pathway (Pentose phosphate cycle)KEGGhsa_M00004
Pentose phosphate pathway, oxidative phase, glucose 6P => ribulose 5PKEGGhsa_M00006
Pentose phosphate pathway (Pentose phosphate cycle)KEGGM00004
Pentose phosphate pathway, oxidative phase, glucose 6P => ribulose 5PKEGGM00006
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
128581762003Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.50
152800302004Hexose-6-phosphate dehydrogenase determines the reaction direction of 11beta-hydroxysteroid dehydrogenase type 1 as an oxoreductase.45
202003322010Family-based analysis of candidate genes for polycystic ovary syndrome.40
263370862015Inhibition of glucose-6-phosphate dehydrogenase sensitizes cisplatin-resistant cells to death.33
202282492010Glucose regulates enzymatic sources of mitochondrial NADPH in skeletal muscle cells; a novel role for glucose-6-phosphate dehydrogenase.19
158271062005A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome.13
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
160914832005Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample.9
186659102009Hepatic 11beta-HSD1 mRNA expression in fatty liver and nonalcoholic steatohepatitis.8
189632042008Adipose tissue 11-beta-Hydroxysteroid Dehydrogenase Type 1 and Hexose-6-Phosphate Dehydrogenase gene expressions are increased in patients with type 2 diabetes mellitus.8

Citation

Dessen P

H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40786/h6pd