| ITCH |
| LOCUS ID | 83737 | ||||||||||
| GENE_SYMBOL | ITCH | ||||||||||
| GENE NAME | itchy E3 ubiquitin p | ||||||||||
| SYNONYMNS | AIF4 AIP4 ADMFD NAPP1 | ||||||||||
| CHROMOSOME | 20 | ||||||||||
| HOMOLOGENE ID | 88442 |
| microRNAs | NA | NA |
| GENE 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. Alter |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Insulin resistance and inflammation | 1. When subjected to HFD, Itch(-/-) mice did not show an increase in body weight or insulin resistance; calorimetric analysis suggested an accelerated metabolism. | 24170694 |