COX14

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorder with complex IV deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• Isolated cytochrome C oxidase deficiency

  0.55

• leigh syndrome due to mitochondrial complex iv deficiency

  0.46

• mitochondrial complex IV deficiency, nuclear type 10

  0.44

• hypertensive disorder

  0.28

• ventricular septal defect

  0.20

• Mitochondrial myopathy and sideroblastic anemia

  0.05

• Hyperlipoproteinemia type 1

  0.05

• Glycogen storage disease due to glucose-6-phosphatase deficiency type b

  0.05

• Varicose veins

  0.05

• Familial hemophagocytic lymphohistiocytosis

  0.05

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

Protein function (UniProt)