Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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Keep as concentrated solution.
Predicted reactivity: Xenopus laevis (93%), Dog (100%), Cat (100%), Pig (100%), Chicken (98%), Bovine (100%).
Positive Control: 293T mock and shQKI.
Store product as a concentrated solution. Centrifuge briefly prior to opening the vial.
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. Sacsin has been found to protect against mutant ataxin-1. A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: DKFZp586I0923; homolog of mouse quaking QKI (KH domain RNA binding protein); Hqk; KH domain-containing RNA-binding protein QKI; lethal, Chr 17, U Wisconsin 1; MqkI; Protein quaking; protein quaking-like; QKI, KH domain containing, RNA binding; QKI-5 protein; quaking homolog, KH domain RNA binding; RNA Binding (QKI); RNA binding protein HQK; rqkI
Gene Aliases: 1110003F05Rik; 1500005P18; HKQ; Hqk; hqkI; l(17)-1Wis; l17Wis1; QK; QK1; QK3; QKI
UniProt ID: (Human) Q96PU8, (Mouse) Q9QYS9
Entrez Gene ID: (Human) 9444, (Mouse) 19317, (Rat) 499022, (Rat) 100910212
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