Gene:  SACS, Human

PrimePCR Primer Assays for Real-Time PCR oligo primer pair gene expression assay target

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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]

PrimePCR™ SYBR® Green Assay: SACS, Human
spastic ataxia of Charlevoix-Saguenay (sacsin)

Assay Type: SYBR® Green
Assay Design: exonic
Application: Gene Expression
Unique Assay ID: qHsaCED0045543
Info:   Recommended - best coverage; Same primer pair as used in probe assay qHsaCEP0052804
List Price:    $142.00
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PrimePCR™ SYBR® Green Assay: SACS, Human
spastic ataxia of Charlevoix-Saguenay (sacsin)

Assay Type: SYBR® Green
Assay Design: Intron-spanning
Application: Gene Expression
Unique Assay ID: qHsaCID0007126
List Price:    $142.00
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PrimePCR™ Probe Assay: SACS, Human
spastic ataxia of Charlevoix-Saguenay (sacsin)

Assay Type: Probe
Assay Design: exonic
Application: Gene Expression
Unique Assay ID: qHsaCEP0052804
List Price:    $208.00
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