Disease-gene associations mined from literature

Literature associating ATXN1 and spinocerebellar ataxia type 7

ATXN1 [ENSP00000244769]

Spinocerebellar ataxia type 1 protein; 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. Binds RNA in vitro. May be involved in RNA metabolism. In concert with CIC and ATXN1L, involved in brain development (By similarity).

Synonyms:  ATXN1,  ATXN1p,  hATXN1,  A0A024R005,  P54253 ...

Linkouts:  STRING  Pharos  UniProt  OMIM