SUPT16H
Description
The SUPT16H (SPT16 homolog, facilitates chromatin remodeling subunit) is a protein-coding gene located on chromosome 14.
SUPT16H encodes the FACT complex subunit SPT16, a protein involved in nucleosome disassembly and transcription elongation. The FACT complex, comprising an 80 kDa and a 140 kDa subunit, facilitates chromatin transcription by interacting with histones H2A/H2B.
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).
SUPT16H is also known as CDC68, FACTP140, NEDDFAC, SPT16, SPT16/CDC68.
Associated Diseases
- Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
- 14q11.2 microduplication syndrome
