UBP46 Polyclonal Antibody, 100ul Immuno Plates Mutations in this gene have

Mutations in this gene have been associated with Andersen syndrome

but it is predicted to be a pseudogene due to a poorly conserved 7-transmembrane domain structure

RPL4 and RPL6

Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules

a separate gene encodes a form of the enzyme that is specific for erythroid tissue

UBP46 Polyclonal Antibody, 100ul Immuno Plates Mutations in this gene haveModification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin conjugating and deubiquitinating enzymes. USP46 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004