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FLASH GENE
Symbol DKC1 contributors: mct/ - updated : 05-11-2014
HGNC name dyskeratosis congenita 1, dyskerin
HGNC id 2890
ASSOCIATED DISORDERS
corresponding disease(s) DKC1 , HHS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in neoplasia
constitutional       loss of function
impairments in DKC1 function also lead to defects in TP53 internal ribosome entry site-dependent activity in DKC1 patient cells
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cancer  
inhibition of human dyskerin is a new approach to target ribosome biogenesis in cancer
ANIMAL & CELL MODELS