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FLASH GENE

Symbol

TBP

contributors: mct - updated : 17-06-2020

HGNC name	TATA box binding protein
HGNC id	11588

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SCA17

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   of an N-terminal fragment of the TATA-box binding protein (TBP) in Alzheimer's disease brain tissue tumoral     --over   contribute to enhanced VEGFA transcription early in colorectal cancer development to drive tumorigenesis

Susceptibility

to type I diabetes( see IDDM8)

Variant & Polymorphism other	CAG/CAA polymorphism in exon 3 associated with diabetes susceptibility

Candidate gene	for mental retardation in the 6q subtelomeric deletion phenotype (DEL6QD)
Marker
Therapy target

ANIMAL & CELL MODELS

	polyQ expansion causes abnormal interaction of TBP with the general transcription factor TFIIB and induces neurodegeneration in transgenic SCA17 mice
	chronic alcohol administration in mice leads to enhanced expression of Tbp, Brf1, tRNA, and 5S rRNA gene transcription in the liver