HES6

hes family bHLH transcription factor 6

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000144485
OMIM:
610331
Synonyms:
BHLHB41

Subcellular localization

Nuclear bodies, Cytosol

References: PMID:40315437

Functional category

  • Ciliary assembly/disassembly

Function

Mutant STAT3 suppressed IL1R1 expression. Furthermore, STAT3 mutations impaired multiciliogenesis by blocking commitment to ciliated cell lineages through inhibition of HES6, leading to defective mucociliary transport. Administration of a γ-secretase inhibitor restored HES6 expression and improved ciliogenesis in STAT3 R382W mutant cells. Conclusions: STAT3 dysfunction leads to multicomponent defects in airway epithelial innate defense, which, in conjunction with immune deficiency, contributes to chronic pulmonary infection in STAT3-HIES(40315437).