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Article

Genetic alterations in SUPT6H are associated with neurodevelopmental disorders.

Biochimica et biophysica acta. Molecular basis of disease - 1 Jun 2026

Carabelli Bruno, Kim Hyung-Goo, Ku Bonsu, Berdasco Clara, Jeong Yu Young, Lai Tho, Jang Mi-Hyeon, Boison Detlev, Kim Yong

Abstract excerpt

Genetic variants affecting the RNA polymerase II complex have been associated with various neurodevelopmental disorders (NDDs). SUPT6H, an RNA polymerase II-associated elongation factor and a histone chaperone, plays a critical role in transcriptional regulation. However, the contribution of SUPT6H variants to human NDDs and the phenotypic consequences of its loss-of-function in vivo remain unexplored. Here, we...

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Identifiers

PMID: 41864309
DOI: 10.1016/j.bbadis.2026.168226
PMCID: PMC13262130

Genes

SUPT6H

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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