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FLASH GENE

Symbol

FURIN

contributors: mct - updated : 29-11-2014

HGNC name	furin (paired basic amino acid cleaving enzyme)
HGNC id	8568

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         no expression in small cell lung cancers tumoral     --over   overexpressed in non small cell lung cancers constitutional     --low   decreased hypothalamic PCSK1, PCSK2, FURIN in huntington disease patients constitutional     --low   in the syncytiotrophoblast is significantly lower in the placentas from pre-eclamptic patients as compared with their gestational age-matched control placentas

Susceptibility

to (PACE) insulin-resistent diabetes (INSR), hemophilia B (F9) and Marfan syndrome (FBN1)

Variant & Polymorphism SNP	SNP in the P1 promoter of FURIN affects furin transcription activity and hepatitis B virus infection outcome

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mutant-/- embryomic lethal,failing to undergo looping and embryonic turning