Aliases for BEAN1 Gene
External Ids for BEAN1 Gene
Previous HGNC Symbols for BEAN1 Gene
Previous GeneCards Identifiers for BEAN1 Gene
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]
GeneCards Summary for BEAN1 Gene
BEAN1 (Brain Expressed Associated With NEDD4 1) is a Protein Coding gene. Diseases associated with BEAN1 include Spinocerebellar Ataxia 31 and Oropouche Fever. Among its related pathways are Spinocerebellar ataxia.