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].
Subunit:
Interacts with NEDD4
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.
SWISS:
Q3B7T3
Gene ID:
146227
Database links:
Entrez Gene: 146227 Human
Omim: 612051 Human
SwissProt: Q3B7T3 Human
Unigene: 97805 Human
|
|
