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FLASH GENE

Symbol

H6PD

contributors: mct/pgu - updated : 22-09-2010

HGNC name	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HGNC id	4795

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver           mouth tongue     highly   salivary gland       highly Endocrine thyroid       highly Lymphoid/Immune lymph node       highly Reproductive male system prostate

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone subchondral     Muscular striatum skeletal

cell lineage
cell lines
fluid/secretion	lymph

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

glucose-6- phosphate dehydrogenase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,microsome
text	located along with HSD11B1 in the lumen of the endoplasmic reticulum (ER)

basic FUNCTION	oxidizing glucose-6-phosphate and glucose, as well as other hexose-6-phosphates
	plays a role in maintaining normal NADPH levels and redox environment inside the endoplasmic reticulum
	luminal enzyme of the endoplasmic reticulum that converts glucose-6-phosphate and NADP(+) to 6-phosphogluconate and NADPH, thereby catalyzing the first two reactions of the pentose-phosphate pathway

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

pentose phosphate pathway inside the endoplasmic reticulum (ER) that generates NADPH for ER enzymes

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	NAD or NADP

protein

HSD11B1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CRD2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       with HSD11B1 in cortisone reductase deficiency

Susceptibility

to multiple sclerosis (MS)

Variant & Polymorphism other	rs17368528 polymorphism associated with MS

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	H6PD null mice suffer a progressive skeletal myopathy
	H6PD null mice indeed show signs of glucocorticoid deficiency, but also suffer from a skeletal myopathy mainly affecting fast twitch muscles, in which the unfolded protein response (UPR) is activated