Disease-gene associations mined from literature

Literature associating SUPT16H and familial hyperinsulinemic hypoglycemia 1

SUPT16H [ENSP00000216297]

Chromatin-specific transcription elongation factor 140 kDa subunit; 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); Armadillo-like helical domain containing

Synonyms:  SUPT16H,  SUPT16Hp,  hSUPT16H,  G3V2X0,  G3V401 ...

Linkouts:  STRING  Pharos  UniProt  OMIM