ITCH, Official Symbol ITCHprovided by HGNC Official Full Name itchy E3 ubiquitin protein ligaseprovided by HGNC Primary source HGNC:HGNC:13890 See related Ensembl:ENSG00000078747 MIM:606409; AllianceGenome:HGNC:13890 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AIF4; AIP4; ADMFD; NAPP1 Summary 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] Expression Ubiquitous expression in testis (RPKM 12.7), esophagus (RPKM 11.6) and 25 other tissues See more Orthologs mouse all