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FLASH GENE

Symbol

BEST1

contributors: shn - updated : 28-03-2017

HGNC name	bestrophin 1
HGNC id	12703

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

VMD2 , RP50 , ADVIRC , ARB

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       many mutations involved in Best vitelliform macular dystrophy by forming non functional channels (mutations disrupting an N-C terminal interaction in the multimer) tumoral     --over   in colonic cancer cells

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS