ASXL1
GeneHomo sapiens2 papers3 findingsHGNC 18318NCBI Gene 171023Taxon 9606
- Humans2
Effects
2AIM2
upin human cells1
1 study
AIM2
upin human cells1
ASXL1 activates AIM2 in human cells.
CellsASXL1-mutant human THP-1-derived macrophage-like cellsmacrophage
ASXL1 mutations in clonal hematopoiesis accelerate aortic valve calcification · medRxiv · 29 Sep 2026 · Preprint
Valvular interstitial cell
upin human cells1
1 study
Valvular interstitial cell
upin human cells1
ASXL1 induces valvular interstitial cell in human cells.
Cellsmutant macrophages conditioned media
ASXL1 mutations in clonal hematopoiesis accelerate aortic valve calcification · medRxiv · 29 Sep 2026 · Preprint
Associations
1Aortic valve stenosis
upin humans1
1 study
Aortic valve stenosis
upin humans1
ASXL1 is associated with aortic valve stenosis in humans.
Humanslarge CHIP clones and non-DNMT3A CHIP subtypesn = 449,109
ASXL1 mutations in clonal hematopoiesis accelerate aortic valve calcification · medRxiv · 29 Sep 2026 · Preprint
Latest
2ASXL1 mutations in clonal hematopoiesis accelerate aortic valve calcification
Large human cohort data and cell experiments show that ASXL1-driven clonal hematopoiesis worsens aortic valve hemodynamics and promotes calcification through inflammatory signaling.
Clonal blood mutations in ASXL1 associate with higher lung cancer risk
Researchers analyzing two large human cohorts found that ASXL1-mutant clonal hematopoiesis linked to more than triple the risk of lung cancer in smokers.