SAE1 Polyclonal Antibody, 50ul ADME Mutations in this gene have

Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia

Alpha-2-macroglobulin is a protease inhibitor and cytokine transporter

GO annotations related to this gene include acetylglucosaminyltransferase activity

involving ubiquitin conjugating enzymes and deubiquitinating enzymes

SAE1 Polyclonal Antibody, 50ul ADME Mutations in this gene havePosttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO activating enzyme for the sumoylation of proteins.