| Entrez gene ID | | 146227 |
|
| Official gene symbol | | BEAN1 |
|
| Full name | | brain expressed, associated with Nedd4 |
|
| Aliases | | ,BEAN,SCA31, |
|
| Gene summary | | 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] |
|
| Location | | Chromosome: 16 Locus: 16q21 |
|
| Gene position | | 66460816 - 66516745 Map Viewer |
|
| Gene orientation | | plus |
|
| Gene size | | 55930 bp |
|
| Gene sequence |
| |
|
| OMIM ID | | 612051 |
|
|
|
