脊髓小脑共济失调蛋白BEAN1抗体

脊髓小脑共济失调蛋白BEAN1抗体 Background: The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. Also known as: BEAN; SCA31; Bean1; BEAN1_HUMAN; Brain-expressed protein associating with Nedd4 homolog; Protein BEAN1; SCA31.脊髓小脑共济失调蛋白BEAN1抗体