Western Blot: SACS Antibody [24340002] - Samples: Lane 1, Marker [kDa]: 250, 130, 95, 72, 55, 36, 28, 17, 11 Lane 2, RT-4 Lane 3, U-251MG sp Lane 4, Human Plasma Lane 5, Liver Lane 6, Tonsil , Target weight ...read more
Store at 4C short term. Aliquot and store at -20C long term. Avoid freeze-thaw cycles.
Buffer
20mM Potassium Phosphate (pH 7.0) and 0.15M NaCl
Preservative
No Preservative
Purity
Immunogen affinity purified
Notes
Manufactured by SDIX's proprietary Genomic Antibody Technology. GAT FAQs.
Alternate Names for SACS Antibody
ARSACS
dnaJ homolog subfamily C member 29
DNAJC29
KIAA0730
SACS
Sacsin
spastic ataxia of Charlevoix-Saguenay (sacsin)
Background
This gene consists of nine exons including a gigantic exon spanning more than 12.8k bp. It encodes the sacsin protein, which includes a UBQ region at the N-terminus, a HEPN domain at the C-terminus and a DnaJ region upstream of the HEPN domain. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. 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. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.
Limitations
This product is for research use only and is not approved for use in humans or in clinical diagnosis. Primary Antibodies are guaranteed for 1 year from date of receipt.
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