DISEASES

Disease-gene associations mined from literature

Literature associating ATXN7L3 and spinocerebellar ataxia type 7

ATXN7L3 [ENSP00000397259]

SAGA-associated factor 11 homolog; Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to recruit USP22 and ENY2 into the SAGA complex. Regulates H2B monoubiquitination (H2Bub1) levels. Affects subcellular distribution of ENY2, USP22 and ATXN7L3B.

Synonyms:  ATXN7L3,  ATXN7L3p,  hATXN7L3,  ATXN7L3-001,  ATXN7L3-002 ...

Linkouts:  STRING  Pharos  UniProt