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Validated All-in-One™ qPCR Primer for AMPH(NM_001635.4) Search again
Powered by BiozBy default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
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. [provided by RefSeq].
Gene References into function
- Female patient with amphiphysin autoantibodies and siff leg syndrome due to small cell cancer of the lung.
- Amphiphysin I (Amph I) is a minibrain kinase/dual-specificity tyrosine phosphorylation-regulated kinase substrate. Amph I phosphorylation changes the recruitment of endophilin at the endocytic sites.
- This study demonstrates that the analysis of the molecular interaction energy components between peptides and the SH3 domain can successfully characterize the binding interface.
- Analyses of Gaussian distribution models showed that diversified properties contribute to the interactions between the SH3 domain and of amphiphysin and peptides.