MPV17

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial DNA maintenance disorder

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial liver disease, including transient infantile liver failure

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

  0.85

• Charcot-Marie-Tooth disease, axonal, type 2EE

  0.73

• mitochondrial DNA depletion syndrome

  0.70

• mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

  0.48

• mitochondrial disease

  0.46

• cholestasis

  0.38

• Hepatic failure

  0.37

• liver failure

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial DNA depletion syndrome, hepatocerebral form

  0.33

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

Protein function (UniProt)