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Product Name BEAN1 Chinese Name 脊髓小脑共济失调蛋白BEAN1抗体 Alias BEAN; SCA31; Bean1; BEAN1_HUMAN; Brain-expressed protein associating with Nedd4 homolog; Protein BEAN1; SCA31. Research Area Cell biology Neurobiology Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Dog, Cow, Horse, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 29kDa Cellular localization The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human BEAN1: 10-70/259 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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
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