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FLASH GENE
Symbol PNPT1 contributors: mct - updated : 15-01-2011
HGNC name polyribonucleotide nucleotidyltransferase 1
HGNC id 23166
ASSOCIATED DISORDERS
corresponding disease(s) COXPD13 , DFNB70
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
rapid overexpression directly promotes apoptosis without cell cycle changes, in melanoma cells
constitutional     --low  
leads to mitochondrial dysfunction with an impairment of mitochondrial RNA processing and the accumulation of polycistronic transcripts
Susceptibility to presbyacusis
Variant & Polymorphism
Candidate gene
Marker
Therapy target
  • targeted overexpression of PNPT1 represents a novel strategy to selectively downregulate RNA expression and consequently intervene in a variety of pathophysiological conditions
  • ANIMAL & CELL MODELS