Disease-gene associations mined from literature

Literature associating ASXL3 and photosensitive epilepsy

ASXL3 [ENSP00000269197]

Additional sex combs like transcriptional regulator 3; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity).

Synonyms:  ASXL3,  ASXL3p,  hASXL3,  K7EIX5,  K7EJ76 ...

Linkouts:  STRING  Pharos  UniProt  OMIM