JUP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arrhythmogenic right ventricular cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Dilated and arrhythmogenic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Epidermolysis bullosa

  BIALLELIC, autosomal or pseudoautosomal

• Epidermolysis bullosa and congenital skin fragility

  BIALLELIC, autosomal or pseudoautosomal

• Ichthyosis and erythrokeratoderma

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Palmoplantar keratoderma and erythrokeratodermas

  BIALLELIC, autosomal or pseudoautosomal

• Palmoplantar keratodermas

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Naxos disease

  0.78

• arrhythmogenic right ventricular dysplasia 12

  0.76

• Arrhythmogenic right ventricular dysplasia

  0.67

• lethal acantholytic epidermolysis bullosa

  0.38

• familial isolated arrhythmogenic ventricular dysplasia, left dominant form

  0.37

• wooly hair-palmoplantar keratoderma syndrome

  0.37

• familial isolated arrhythmogenic ventricular dysplasia, biventricular form

  0.37

• familial isolated arrhythmogenic ventricular dysplasia, right dominant form

  0.37

• dilated cardiomyopathy

  0.35

• cardiomyopathy

  0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)