DISEASES

Disease-gene associations mined from literature

Literature associating ATXN1L and spinocerebellar ataxia type 1

ATXN1L [ENSP00000415822]

Brother of ataxin-1; Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1). In concert with CIC and ATXN1, involved in brain development (By similarity).

Synonyms:  ATXN1L,  ATXN1Lp,  hATXN1L,  G1UI23,  P0C7T5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM