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NeoBiotechnologies
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.
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Protein Aliases: DKFZp586I0923; homolog of mouse quaking QKI (KH domain RNA binding protein); Hqk; KH domain-containing RNA-binding protein QKI; Protein quaking; QKI, KH domain containing, RNA binding; quaking homolog, KH domain RNA binding; RNA Binding (QKI); RNA binding protein HQK
Gene Aliases: HKQ; Hqk; hqkI; QK; QK1; QK3; QKI
UniProt ID: (Human) Q96PU8
Entrez Gene ID: (Human) 9444
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