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HUWE1 - HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
- Synonym(s) : Ib772, KIAA0312, UREB1
- Previous symbols and names : HECT, UBA and WWE domain containing 1
- Type : gene with protein product
- Chromosomal location : Xp11.22
- OMIM: 300697
- HGNC: 30892
- UniProtKB: Q7Z6Z7
- Genatlas: HUWE1
- GenCC: HUWE1
- Ensembl: ENSG00000086758
- IUPHAR-DB: -
- Reactome: Q7Z6Z7
- LOVD: HUWE1
Diseases list
- Disease-causing germline mutation(s) in Non-specific syndromic intellectual disability
ORPHA:528084 
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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