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ITCH - itchy E3 ubiquitin protein ligase
- Synonym(s) : AIP4
- Previous symbols and names : Itchy E3 ubiquitin protein ligase homolog (mouse), itchy (mouse homolog) E3 ubiquitin protein ligase, itchy E3 ubiquitin protein ligase homolog (mouse)
- Type : gene with protein product
- Chromosomal location : 20q11.22
- OMIM: 606409
- HGNC: 13890
- UniProtKB: Q96J02
- Genatlas: ITCH
- GenCC: ITCH
- Ensembl: ENSG00000078747
- IUPHAR-DB: -
- Reactome: Q96J02
- LOVD: ITCH
Diseases list
- Disease-causing germline mutation(s) in Syndromic multisystem autoimmune disease due to Itch deficiency
ORPHA:228426 
: AssessedAdditional information
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