Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

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

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