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FLASH GENE

Symbol

TOPORS

contributors: mct - updated : 15-03-2011

HGNC name	topoisomerase I binding, arginine/serine-rich
HGNC id	21653

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

RP31

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   leads to NKX3.1 proteasomal degradation in prostate cancer cells tumoral         lung carcinoma constitutional somatic mutation insertion     causing autosomal dominant retinitis pigmentosa constitutional somatic mutation deletion     causing autosomal dominant retinitis pigmentosa

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Somatic-gene-therapy rescue has been achieved in several animal models of retinal degeneration, including the rds mouse, and may also prove to be a successful approach for this type of adRP