SVOP Polyclonal Antibody, 50ul Dialysis An inactivating nonsense mutation localized

An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9

Alternative splicing results in four transcript variants encoding the same protein

ITCH (itchy E3 ubiquitin protein ligase) encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases

which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins

which suggests its role in PI(3) kinase-mediated signaling events

SVOP Polyclonal Antibody, 50ul Dialysis An inactivating nonsense mutation localizedSVOP (SV2 Related Protein) is a Protein Coding gene. GO annotations related to this gene include transmembrane transporter activity and ion transmembrane transporter activity. An important paralog of this gene is SV2C.