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FLASH GENE

Symbol

PKHD1

contributors: mct - updated : 16-12-2020

HGNC name	polycystic kidney and hepatic disease 1 (autosomal recessive)
HGNC id	9016

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ARPKD

related resource

Autosomal Recessive Polycystic Kidney Disease

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   caused by mutation of TCF2 produce kidney cysts constitutional       loss of function disruption of PKHD1 activity results in altered trafficking of multiple proteins

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS