SACS sirna

SACS siRNA (Human)

Cat. Num. AAA8212580

• Gene Names: SACS; SPAX6; ARSACS; DNAJC29; PPP1R138
• Reactivity: Human
• Applications: RNA Interference (RNAi)
• Purity: > 97%
• Synonyms: SACS; SACS siRNA (Human); KIAA0730; Sacsin; DnaJ homolog subfamily C member 29; DNAJC29; SACS sirna

• Host: Synthetic
• Reactivity: Human
• Specificity: SACS siRNA (Human) is a target-specific 19-23 nt siRNA oligo duplexes designed to knock down gene expression.
• Purity/Purification: > 97%
• Form/Format: Lyophilized powder
• Sequence Length: 4579

• Applicable Applications for SACS sirna: RNA Interference (RNAi)
• Quality Control: Oligonucleotide synthesis is monitored base by base through trityl analysis to ensure appropriate coupling efficiency. The oligo is subsequently purified by affinity-solid phase extraction. The annealed RNA duplex is further analyzed by mass spectrometry to verify the exact composition of the duplex. Each lot is compared to the previous lot by mass spectrometry to ensure maximum lot-to-lot consistency.
• Directions for Use: We recommends transfection with 100 nM siRNA 48 to 72 hours prior to cell lysis. Before resuspending, briefly centrifuge the tube to ensure the lyophilized siRNA is at the bottom of the tube. Resuspend the siRNA oligos to an appropriate concentration with DEPC water. For each vial, suitable for 250 transfections in 24 well plate (20 pmol for each well).
• Components: We offer pre-designed sets of 3 different target-specific siRNA oligo duplexes of human SACS gene. Each vial contains 5 nmol of lyophilized siRNA. The duplexes can be transfected individually or pooled together to achieve knockdown of the target gene, which is most commonly assessed by qPCR or western blot. Our siRNA oligos are also chemically modified (2'-OMe) at no extra charge for increased stability and enhanced knockdown in vitro and in vivo.
• Preparation and Storage: Shipped at 4 degree C. Store at -20 degree C for one year.

Related Product Information for SACS sirna

siRNA to inhibit SACS expression using RNA interference

NCBI and Uniprot Product Information

• NCBI GI #: 163659918
• NCBI GeneID: 26278
• NCBI Accession #: NP_055178.3
• NCBI GenBank Nucleotide #: NM_014363.5
• UniProt Accession #: Q9NZJ4; O94835; Q5T9J5; Q5T9J7; Q5T9J8; Q68DF5; Q6MZR4; Q8NBF9
• Molecular Weight: 436,976 Da
• NCBI Official Full Name: sacsin isoform 1
• NCBI Official Synonym Full Names: sacsin molecular chaperone
• NCBI Official Symbol: SACS
• NCBI Official Synonym Symbols: SPAX6; ARSACS; DNAJC29; PPP1R138
• NCBI Protein Information: sacsin
• UniProt Protein Name: Sacsin
• Protein Family: Sacsin
• UniProt Gene Name: SACS
• UniProt Synonym Gene Names: KIAA0730; DNAJC29
• UniProt Entry Name: SACS_HUMAN

NCBI Description

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). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

Uniprot Description

SACS: Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins. Defects in SACS are the cause of spastic ataxia Charlevoix-Saguenay type (SACS). It is a neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Chaperone

Chromosomal Location of Human Ortholog: 13q12

Cellular Component: mitochondrion; axon; cytoplasm; dendrite; nucleus

Molecular Function: chaperone binding; Hsp70 protein binding

Biological Process: protein folding

Disease: Spastic Ataxia, Charlevoix-saguenay Type