UQCC2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorder with complex III deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Isolated CoQ-cytochrome C reductase deficiency

  0.72

• immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy

  0.45

• mitochondrial complex III deficiency

  0.37

• rheumatoid arthritis

  0.36

• neurodegenerative disease

  0.36

• sarcoidosis

  0.29

• hypothyroidism

  0.28

• Alzheimer disease

  0.27

• Parkinson disease

  0.27

• multiple sclerosis

  0.27

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

Protein function (UniProt)