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.
medRxiv · Small A et al.
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.
Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · Zhang Z et al.