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This antibody is predicted to react with bovine, canine, human, porcine and rat based on sequence homology.
This antibody is tested in Peptide ELISA: antibody detection limit dilution 64,000.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: DKFZp586I0923; KH domain-containing RNA-binding protein QKI; lethal, Chr 17, U Wisconsin 1; MqkI; Protein quaking; QKI-5 protein; RNA Binding (QKI)
基因别名: 1110003F05Rik; 1500005P18; l(17)-1Wis; l17Wis1; Qk; Qk1; QkI
UniProt ID: (Mouse) Q9QYS9
Entrez Gene ID: (Mouse) 19317