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FLASH GENE
Symbol USP8 contributors: mct/npt/pgu - updated : 28-04-2016
HGNC name ubiquitin specific protease 8
HGNC id 12631
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
leads to diminished CXCR4 turnover and induces receptor accumulation on enlarged HGS-positive early endosomes
constitutional somatic mutation     gain of function
contribute to ACTH overproduction in Cushing disease
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
tumor  
inhibition of USP8 or EGFR is promising for treating USP8-mutated corticotrophin adenoma
ANIMAL & CELL MODELS