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FLASH GENE

Symbol

NEK1

contributors: mct - updated : 11-07-2023

HGNC name	NIMA (never in mitosis gene a)-related kinase 1
HGNC id	7744

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SRPS2 , ALS24

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         severely reduces cilia number and alters ciliar morphology constitutional       loss of function Nek1 deficiency leads to disordered kidney maturation, and cysts throughout the nephron constitutional       loss of function disrupts endosomal trafficking of plasma membrane proteins and cerebral proteome homeostasis to promote mitochondrial and lysosomal dysfunction and aggregation of SNCA

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mutated Nek1 display progressive polycystic kidney disease
	Nek1 is the primary protein inactivated in kat2J mouse models of PKD