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Proteintech
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Immunogen sequence: MVGEMETKE KPKPTPDYLM QLMNDKKLMS SLPNFCGIFN HLERLLDEEI SRVRKDMYND TLNGSTEKRS AELPDAVGPI VQLQEKLYVP VKEYPDFNFV GRILGPRGLT AKQLEAETGC KIMVRGKGSM RDKKKEEQNR GKPNWEHLNE DLHVLITVED AQNRAEIKLK RAVEEVKKLL VPAAEGEDSL KKMQLMELAI LNGTYRDANI KSPALAFSLA ATAQAAPRII TGPAPVLPPA ALRTPTPAGP TIMPLIRQIQ TAVMPNGTPH PTAAIVPPGP EAGLIYTPYE YPYTLAPATS ILEYPIEPSG VLGAVATKVR RHDMRVHPYQ RIVTADRAAT GN (1-341 aa encoded by BC019917)
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; 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
基因别名: 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