Gene Symbol | ITCH |
Entrez Gene ID | 83737 |
Full Name | itchy E3 ubiquitin protein ligase |
Synonyms | ADMFD,AIF4,AIP4,NAPP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3) |