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FLASH GENE

Symbol

PNPT1

contributors: mct - updated : 15-01-2011

HGNC name	polyribonucleotide nucleotidyltransferase 1
HGNC id	23166

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

COXPD13 , DFNB70

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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