Relevance to Autism

Rare genetic variants involving TAF1 were identified in affected males from 11 families presenting with an X-linked syndrome characterized by developmental delay, intellectual disability, facial dysmorphic features, generalized hypotonia, and variable neurologic features (O'Rawe et al., 2015); ten of the fourteen probands with TAF1 variants in this report exhibited autistic behaviors.

Molecular Function

The protein encoded by this gene is the largest component and core scaffold of the TFIID basal transcription factor complex. It binds to core promoter sequences encompassing the transcription start site, as well as to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. X-linked dystonia-parkinsonism (OMIM 314250) is caused by a retrotransposon insertion in an intron of TAF1 in the Filipino population.

External Links

References