PrimePCR™ ddPCR™ Expression Probe Assay: SACS, Human


ddPCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   FAM; Same primer pair and probe as used in qPCR assay qHsaCEP0052804; exonic

Fluorophore:   FAM
List Price:    $207.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5038440
Chromosome Location:   13:23928893-23929038question
Amplicon Length:   116

Gene Information

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]

Gene Symbol:   SACS
Gene Name:   spastic ataxia of Charlevoix-Saguenay (sacsin)
Aliases:   ARSACS, DKFZp686B15167, DNAJC29
RefSeq:   NC_000013.10 NG_012342.1 NT_024524.14
Ensembl:   ENSG00000151835
Entrez:   26278
UniGene:   Hs.159492
Chromosome Mapping:   13q12

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