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FLASH GENE

Symbol

NFAT5

contributors: mct/npt/pgu - updated : 20-03-2015

HGNC name	nuclear factor of activated T-cells 5, tonicity-responsive
HGNC id	7774

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   significantly higher in the preeclamptic compared to normal placentas

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology immunodeficiency   long terminal repeat site NFAT5 interaction may thus present a novel therapeutic target to suppress HIV-1 replication and progression of AIDS

ANIMAL & CELL MODELS

	TonEBP mutant mice display marked decrement in the expression of AQP1 in the inner medulla
	Nfat5-deficient mice present severe atrophy of the renal medulla, systemic hypernatremia, and a reduced thymocyte compartment and mature T-cell lymphopenia