SPT16 homolog, facilitates chromatin remodeling subunit
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Diagnostic Grade (Green)
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownneurodevelopmental disorder with dysmorphic facies and thin corpus callosum
HIV infectious disease
Global developmental delay
Intellectual disability
Abnormal corpus callosum morphology
neurodegenerative disease
mathematical ability
hereditary disease
ovarian dysfunction
Abnormality of limbs
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
FACT complex subunit SPT16
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 the nucleosome, then subsequently promotes the reestablishment of the nucleosome following the passage of RNA polymerase II. The FACT complex is probably also involved in phosphorylation of 'Ser-392' of p53/TP53 via its association with CK2 (casein kinase II)
Curated MONDO disease pages that list SUPT16H among their top associated genes.
SUPT16H · Q9Y5B9
Mean pLDDT
79.9/ 100
Confident
1,047 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
