Aliases: HBXAP, RSF-1, XAP8, p325
Chromosome No: 11
Chromosome Band: 11q14.1
Genetic Category: Rare single gene variant-Syndromic
ASD Reports: 5
Recent Reports: 0
Annotated variants: 13
Associated CNVs: 2
Evidence score: 3
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Relevance to Autism
Jost et al., 2026 identified a total of 11 unrelated individuals harboring predominantly de novo heterozygous variants in the RSF1 gene; all individuals presented with a neurodevelopmental disorder, whether intellectual disability, autism spectrum disorder, or developmental delay, and from the seven individuals with detailed clinical information, unspecific and inconsistent associated features were described, including craniofacial dysmorphism, musculoskeletal, digestive, vision, and tone-associated phenotypes, epilepsy, and brain MRI anomalies. De novo missense variants in the RSF1 gene have previously been identified in ASD probands from the Autism Sequencing Consortium and the SPARK cohort (De Rubeis et al., 2014; Zhou et al., 2022).
Molecular Function
This gene encodes a nuclear protein that interacts with hepatitis B virus X protein (HBX) and facilitates transcription of hepatitis B virus genes by the HBX transcription activator, suggesting a role for this interaction in the virus life cycle. This protein also interacts with SNF2H protein to form the RSF chromatin-remodeling complex, where the SNF2H subunit functions as the nucleosome-dependent ATPase, and this protein as the histone chaperone.
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