Invitrogen™ QKI Polyclonal Antibody

Descripción

Positive test controls include: HL-60, HeLa, NCI-H460, Mouse heart, Mouse lung, Mouse brain, Rat liver. The target is usually found in the following locations: Cytoplasm, Nucleus. Immunogen sequence: MVGEMETKEK PKPTPDYLMQ LMNDKKLMSS LPNFCGIFNH LERLLDEEIS RVRKDMYNDT LNGSTEKRSA ELPDAVGPIV QLQEKLYVPV KEYPDFNFVG RILGPRGLTA KQLEAETGCK IMVRGKGSMR DKKKEEQNRG KPNWEHLNED LHVLITVEDA QNRAEIKLKR AVEEVKKLLV PAAEGEDSLK KMQLMELAIL NGTYRDANIK SPALAFSLAA TAQAAPRIIT GPAPVLPPAA LRTPTPAGPT IMPLIRQIQT AVMPNGTPHP TAAIVPPGPE AGLIYTPYEY PYTLAPATSI LEYPIEPSGV LGAVATKVRR HDMRVHPYQR IVTADRAATG N.

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.