Eg5 Polyclonal Antibody, 100ul Modification Enzymes Mutations in this gene are

Mutations in this gene are associated with ARCS2 (arthrogryposis| renal dysfunction| and cholestasis-2)

The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al

This gene encodes a member of the Snf2 family of helicase-like proteins

is a 647 amino acid cytoplasmic protein that is constitutively expressed during the cell cycle

Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2)| with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane

Eg5 Polyclonal Antibody, 100ul Modification Enzymes Mutations in this gene areKIF11 encodes a motor protein that belongs to the kinesin like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of KIF11 product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis.