Disease-gene associations mined from literature

Literature associating ASXL1 and myelophthisic anemia

ASXL1 [ENSP00000364839]

Additional sex combs like transcriptional regulator 1; Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1).

Synonyms:  ASXL1,  ASXL1p,  hASXL1,  ASXH1,  Q498B9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM