Entity Details
Details
| PrimaryID | 146227 |
| RefseqGene | NG_021403 |
| Symbol | BEAN1 |
| Name | brain expressed associated with NEDD4 1 |
| Chromosome | 16 |
| Location | 16q21 |
| TaxID | 9606 |
| Status | live |
| SourceGenome | genomic |
| SourceOrigin | natural |
| CreationDate | 2002-01-21 |
| ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
| Disease ID | Source | Name | Description |
| 117210 | OMIM | Spinocerebellar ataxia 31 (SCA31) | A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA31 belongs to the autosomal dominant cerebellar ataxias type III (ADCA III) which are characterized by pure cerebellar ataxia without additional signs. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
3 interactions