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Details of ITCH gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| ITCH | --- | Q96J02 | ITCH_HUMAN | 83737 | ENSG00000078747 | E3 ubiquitin-protein ligase Itchy homolog | SPROT |
Disease |
Disease |
OMIM id |
Syndromic multisystem autoimmune disease (SMAD) [MIM:613385]: A disorder characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features and autoimmune inflammatory cell infiltration of the lungs, liver and gut. Note=The disease is caused by mutations affecting the gene represented in this entry. |
613385 |