{"symbol":"ITCH","synonyms":["ADMFD","AIP4","AIF4","DJ468O1.1","NAPP1"],"name":"itchy E3 ubiquitin protein ligase","description":"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]","ncbiEntrezGeneId":83737,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/83737","proteins":[{"symbol":"ITCH_HUMAN","href":"/api/1.0/protein/ITCH_HUMAN"}],"hgncRootFamilies":[{"name":"C2 domain containing","href":"/api/1.0/gene_family/C2+domain+containing"}]}