TBP(redirected from GTF2D1)
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Abbreviation for thyroxine-binding protein.
Farlex Partner Medical Dictionary © Farlex 2012
TBPA gene on chromosome 6q27 that encodes a general transcription factor which acts at the core of the DNA-binding multiprotein factor TFIID. Binding of TFIID to the TATA box is the first transcription step of the pre-initiation complex, and plays a role in activating eukaryotic genes transcribed by RNA polymerase II. TBP is a component of the transcription factor SL1/TIF-IB complex, which is involved in assembling the pre-initiation complex during RNA polymerase I-dependent transcription.
Defects of TBP—expansion of a CAG repeat in the coding region—cause spinocerebellar ataxia type 17; the longer the expansion, the earlier the onset and the more severe the clinical disease.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.