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FLASH GENE

Symbol

TAF15

contributors: mct/npt/shn - updated : 04-11-2013

HGNC name	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa
HGNC id	11547

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 fusion       with TEC in extraskeletal myxoid chondrosarcoma (Kim 2008) tumoral   translocation     involved in acute leukemia through fusion with ZNF384 (Martini 2002) tumoral     --over   in liposarcoma

Susceptibility

Variant & Polymorphism

Candidate gene	Amyotrophic lateral sclerosis
Marker
Therapy target

ANIMAL & CELL MODELS

	G391E, R408C, and G473E TAF15 variants caused formation of cytoplasmic foci when expressed in primary cultures of spinal cord neurons
	TAF15 Up-Regulation Causes Neurodegeneration in Drosophila
	Immunohistochemistry of postmortem spinal cord tissue revealed mislocalization of TAF15 in motor neurons of patients with amyotrophic lateral sclerosis