MRPL39

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• combined oxidative phosphorylation deficiency 59

  0.62

• mitochondrial disease

  0.49

• neurodegenerative disease

  0.46

• Leigh syndrome

  0.36

• inborn mitochondrial metabolism disorder

  0.19

• hair color

  0.16

• hypothyroidism

  0.14

• obesity disorder

  0.14

• Abnormal nasolacrimal system morphology

  0.13

• liver disorder

  0.12

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