TAF3

Chr 10

TATA-box binding protein associated factor 3

Also known as: TAF140, TAFII-140, TAFII140

NCBI Gene: 83860 ENSG00000165632 UniProt: Q5VWG9

TAF3 encodes a subunit of the TFIID transcription factor complex that recognizes promoters and initiates RNA polymerase II-dependent transcription, and also functions in muscle cell differentiation by forming complexes that replace TFIID at specific promoters. Mutations cause autosomal recessive intellectual disability with dysmorphic facies and behavioral abnormalities. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely pathogenic.

ResearchSummary from RefSeq, UniProt

The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (2)