QKI Antibodies

靶标信息

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.

同义词

1110003F05Rik; 1500005P18; DKFZp586I0923; HKQ; homolog of mouse quaking QKI (KH domain RNA binding protein); Hqk; hqkI; l(17)-1Wis; l17Wis1; lethal, Chr 17, U Wisconsin 1; MqkI; Protein quaking; protein quaking-like; Qk; QK1; QK3; Qka1; Qki; QKI, KH domain containing RNA binding; QKI, KH domain containing, RNA binding; QKI-5 protein; quaking; quaking homolog, KH domain RNA binding; RNA Binding (QKI); RNA binding protein HQK; rqkI