ATP-dependent chromatin-remodeling factor, it slides nucleosomes along DNA; nucleosome sliding requires ATP (PubMed:28533432). Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expres

Nucleus

Intellectual developmental disorder with autism and macrocephaly

An autosomal dominant disorder characterized by impaired intellectual development, a highly penetrant autism spectrum phenotype, and macrocephaly. Other common features include tall stature, gastrointestinal symptoms, distinct facial features, sleep problems, and attention problems.

Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from

NucleusChromosome

Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and autistic-like behaviors. Corpus callosum anomalies are visible on brain imaging. Most patients have dysmorphic features including tall forehead, down-slanting palpebral fissures, ear anomalies and broad nasal bridge. Other variably present clinical features include seizures, sleeping difficulties and precocious puberty.