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FLASH GENE

Symbol

CEP164

contributors: mct/npt/pgu - updated : 02-02-2020

HGNC name	centrosomal protein 164 kDa
HGNC id	29182

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

NPHP15

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     collecting duct-specific deletion of CEP164 abolished primary cilia from the collecting duct epithelium and led to rapid postnatal cyst growth in the kidneys

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

administration of roscovitine, a cell cycle inhibitor, blocked cyst growth in the cortical collecting ducts and preserved kidney parenchyma in Cep164 knockout mice