SUCLA2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  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

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Rhabdomyolysis and metabolic muscle disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

  0.82

• mitochondrial DNA depletion syndrome, encephalomyopathic form

  0.58

• neurodegenerative disease

  0.49

• mitochondrial disease

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• Leigh syndrome

  0.37

• lysosomal storage disease

  0.35

• hereditary disease

  0.34

• disease of peritoneum

  0.27

• autoimmune disorder of central nervous system

  0.26

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

Protein function (UniProt)