This is the amplicon context sequence in accordance with the minimum information for the publication of real-time quantitative PCR experiements (MIQE) guidelines. For more details, please refer to the following publication, "Primer Sequence Disclosure: A Clarification of the MIQE Guidelines."
Real-time PCR primer assay designed for SYBR® Green gene expression analysis.
PrimePCR™ PreAmp for SYBR® Green Assay: SACS, Human
PrimePCR™ Template for SYBR® Green Assay: SACS, Human
This gene encodes the sacsin protein which includes a UbL domain at the N-terminus a DnaJ domain and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system also found in skin skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al. PubMed: 19208651). [provided by RefSeq Apr 2012]
Products used to generate validation data:
Amplification of cDNA generated from universal RNA.
Melt curve analysis of above amplification.
Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.