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FLASH GENE

Symbol

FUS

contributors: mct/pgu - updated : 20-04-2017

HGNC name	fused in sarcoma
HGNC id	4010

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

FUS , AMLT1 , ALS6 , ETM4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     rearranged in myxoid liposarcoma with translocation t(12;16) and in myeloid leukemia with translocation t(16;21)(q13;p11) tumoral fusion       fused with ATF1 in t (12;16)(q13;p11) in angiomatoid fibrous histiocytomas and with DDIT3 in myxoid liposarcoma tumoral fusion       fused with ERG in t(16;21)(p11;q22)in Ewing sarcoma tumoral fusion       with CREB3L2 in t(7;16) (q33;p11 in fibromyxoid sarcoma, low-grade constitutional germinal mutation       in ALS6, amyotrophic lateral sclerosis (R521G missense mutation in FUS/TLS led to aberrant trafficking with subsequent cytoplasmic retention of the mutant protein) tumoral     --over   in liposarcoma

Susceptibility

to essential tremor

Variant & Polymorphism other	nonsense mutation (c.868C>T) associated to essential tremor

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

major components of nuclear polyQ aggregate-interacting proteins in a Huntington disease cell model and was also associated with neuronal intranuclear inclusions of R6/2 mice