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FLASH GENE

Symbol

GLIS3

contributors: mct/pgu - updated : 11-04-2015

HGNC name	GLIS family zinc finger 3
HGNC id	28510

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

NDH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function leads to the development of cystic renal disease, suggesting that it plays a critical role in maintaining normal renal functions constitutional       gain of function involves a primary cilium-associated signal pathway constitutional       loss of function leads to the development of neonatal diabetes and polycystic kidney disease

Susceptibility

to type 2 diabetes to decreased glucose-stimulated insulin response

Variant & Polymorphism SNP	rs7034200 displayed evidence for association with type 2 diabetes
	variants at the DGKB/AGMO, ADRA2A, GLIS3 and C2CD4B loci were associated with decreased glucose-stimulated insulin response

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Glis3 mutant mice exhibit abnormalities very similar to those displayed by NDH1 patients,
	including a greatly reduced life span and development of polycystic kidneys and neonatal diabetes