Description
Product Characteristics: ITCH, AIF4, itchy homolog E3 ubiquitin protein ligase (mouse), AIP4, NAPP1, dJ468O1.1, NFE2-associated polypeptide 1, atrophin-1 interacting protein 4, dJ468O1.1 (atrophin 1 interacting protein 4, AIP4), itchy homolog E3 ubiquitin protein ligase, ubiquitin protein ligase ITCH
Target Information: This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]