ATPAF2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorder with complex V deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Isolated ATP synthase deficiency

  0.71

• mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

  0.66

• inborn mitochondrial metabolism disorder

  0.50

• mitochondrial disease

  0.50

• squamous cell carcinoma

  0.24

• schizophrenia

  0.18

• microcephaly

  0.11

• myocardial infarction

  0.06

• autosomal recessive spondylocostal dysostosis

  0.06

• autosomal dominant spondylocostal dysostosis

  0.05

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

Protein function (UniProt)