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FLASH GENE

Symbol

TGM6

contributors: mct - updated : 27-08-2014

HGNC name	transglutaminase 6
HGNC id	16255

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SCA35

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   promotes the formation of polyQ aggregates and the conversion of soluble polyQ into insoluble polyQ aggregates

Susceptibility

to acute myeloid leukaemia (AML)

Variant & Polymorphism other	missense mutation in TGM6 c.1550T>G, p.(L517W) increasing the risk of AML

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS