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FLASH GENE
Symbol SLC12A1 contributors: mct/pgu - updated : 10-05-2016
HGNC name solute carrier family 12 (sodium/potassium/chloride transporters), member 1
HGNC id 10910
ASSOCIATED DISORDERS
corresponding disease(s) BSND1 , NHPT1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion      
with LEO1 in gliomas
constitutional     --low  
through inhibitory factors for SLC12A1 expression in dehydration
constitutional       gain of function
is linked with inherited hypertension
Susceptibility to essential hypertension
Variant & Polymorphism other rare alleles protecting against essential hypertension
Candidate gene
Marker
Therapy target target of loop diuretic drugs used worldwide for the treatment of edematous states
SystemTypeDisorderPubmed
miscelleaneousurinary 
target of loop diuretic drugs used worldwide for the treatment of edematous states
ANIMAL & CELL MODELS