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],ADMFD, AIF4, AIP4, NAPP1,Apoptosis,Cell Biology & Developmental Biology,Immunology & Inflammation,NF-kB Signaling Pathway,Notch Signaling Pathway,Signal Transduction,Ubiquitin,Ubiquitin_Ubiquitin-Proteasome Signaling Pathway,ITCH