ID:BEAN1_HUMAN DESCRIPTION: RecName: Full=Protein BEAN1; AltName: Full=Brain-expressed protein associating with Nedd4 homolog; Short=BEAN; SUBUNIT: Interacts with NEDD4 (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential). DISEASE: Defects in BEAN1 are the cause of spinocerebellar ataxia type 31 (SCA31) [MIM:117210]; also known as spinocerebellar ataxia 16q22-linked. 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. SEQUENCE CAUTION: Sequence=AAI07478.1; Type=Erroneous initiation; Sequence=EG328447; Type=Frameshift; Positions=79;
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q3B7T3
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