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FLASH GENE

Symbol

NPC1

contributors: mct/pgu - updated : 09-02-2017

HGNC name	Niemann-Pick disease, type C1
HGNC id	7897

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

NPC1 , NPD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function neuronal NPC1 deficiency is sufficient to mediate neurodegeneration

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed metabolism lysosome   small molecules that remodel the protein-folding environment in the ER may be therapeutically beneficial for some Niemann–Pick C patients metabolism lysosome   utility of proteostasis regulators to remodel the protein-folding environment in the ER to recover function in the setting of disease-causing missense alleles

ANIMAL & CELL MODELS

global deletion of Npc1 in adult mice leads to progressive weight loss, impaired motor function and early death in a time course similar to that resulting from germline deletion