Definition The gene on chromosome 16q21 that encodes brain expressed—associated with NEDD4—1 (OMIM: 612051, UniProtKB: Q3B7T3), a protein which interacts with NEDD4, a developmentally regulated ubiquitin-protein ligase highly expressed in embryonic tissues.
This protein product and related proteins have PY motifs that bind to NEDD4’s WW domains. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Molecular pathology Defects of BEAN1 in the form of intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence, cause spinocerebellar ataxia type 31 (OMIM:117210).
Synonyms Brain expressed—associated with NEDD4—1, BEAN, brain-expressed protein associating with Nedd4 homolog, SCA31