ATXN1L


Description

The ATXN1L (ataxin 1 like) is a protein-coding gene located on chromosome 16.

ATXN1L acts as a corepressor for the CBF1 transcription factor, suppressing Notch signaling when the Notch intracellular domain is absent. It binds to the HEY promoter and potentially aids in RBPJ-mediated repression along with NCOR2. ATXN1L can counteract the toxic effects of ATXN1 in spinocerebellar ataxia type 1 (SCA1). It plays a role in brain development in collaboration with CIC and ATXN1.

ATXN1L is also known as BOAT, BOAT1.

Associated Diseases



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