Relevance to Autism

De novo missense variants in the HNRNPF gene have been observed in ASD probands from the Simons Simplex Collection and the MSSNG cohort (Iossifov et al., 2014; Yuen et al., 2017). A third missense variant in this gene was identified in a 17-year-old male from Baylor Genetics Laboratory (BGL) who presented with autism spectrum disorder, delayed speech and language development, and seizures (Gillentine et al., 2021).

Molecular Function

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs which have guanosine-rich sequences. This protein is very similar to the family member hnRPH.

External Links

References