Molecular weight (DA)
76kD
Immunogen
The antiserum was produced against synthesized peptide derived from human AMPH. AA range:131-180
Specificity
Amphiphysin I Polyclonal Antibody detects endogenous levels of Amphiphysin I protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
Western Blot: 1/500 - 1/2000. ELISA: 1/20000. Not yet tested in other applications.
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010],
Function
disease:Antibodies against AMPH are detected in patients with stiff-man syndrome, a rare disease of the central nervous system characterized by progressive rigidity of the body musculature with superimposed painful spasms.,function:May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton.,similarity:Contains 1 BAR domain.,similarity:Contains 1 SH3 domain.,subunit:Heterodimer with BIN1. Binds SH3GLB1 and AP2A2.,tissue specificity:Neurons, certain endocrine cell types and spermatocytes.,
Abbreviation
Amphiphysin I
Other name
AMPH; AMPH1; Amphiphysin
Fields
>>Endocytosis;>>Fc gamma R-mediated phagocytosis
Human protein sequence Database
P49418
Mouse protein sequence database
Q7TQF7
Rat protein sequence database
O08838
Cellular localization
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton.
Tissue expression
Neurons, certain endocrine cell types and spermatocytes.
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