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FLASH GENE

Symbol

NPHS1

contributors: mct/pgu - updated : 20-11-2015

HGNC name	nephrosis 1, congenital, Finnish type (nephrin)
HGNC id	7908

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

NPHS1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   downregulated in patients with proteinuric glomerular diseases

Susceptibility

to minimal change nephrotic syndrome

Variant & Polymorphism other	variants C265R and V822M associated to minimal change nephrotic syndrome

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

murine Nphs1, expressed in kidney, brain, pancreas, knockout leading to massive proteinuria and neonatal death