DISEASES

Disease-gene associations mined from literature

Literature associating TBL1XR1 and West syndrome

TBL1XR1 [ENSP00000405574]

F-box-like/WD repeat-containing protein TBL1XR1; F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing cofactor exchange, and transcription activation; Belongs to the WD repeat EBI family.

Synonyms:  TBL1XR1,  TBL1XR1p,  hTBL1XR1,  A0A0D9SEW5,  A0A0D9SF25 ...

Linkouts:  STRING  Pharos  UniProt  OMIM