BPTFbromodomain PHD finger transcription factor

Relevance to Autism

Missense variants in the BPTF gene have been identified in ASD probands from the MSSNG cohort, the SPARK cohort, the Autism Sequencing Consortium, and most recently in a cohort of 75 Turkish patients diagnosed with ASD (Yuen et al., 2017; Zhou et al., 2022; Fu et al., 2022; Kayhan et al., 2026). De novo loss-of-function variants in this gene have been reported in ASD probands from the REACH cohort and a Spanish ASD cohort, as well as in an individual with autism from a ethnically diverse pediatric patient population (Ji et al., 2019; Antaki et al., 2022; Blzquez et al., 2025). ASD has also been reported in a subset of individuals with NEDDFL (2/10 in Stankiewicz et al., 2017, and 3/26 individuals in Glinton et al., 2021).

Molecular Function

This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling

External Links

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Human

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