MTFMT

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

+3 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• combined oxidative phosphorylation defect type 15

  0.83

• mitochondrial complex I deficiency, nuclear type 27

  0.78

• Leigh syndrome

  0.51

• neurodegenerative disease

  0.51

• hereditary disease

  0.47

• Cytochrome C oxidase-negative muscle fibers

  0.34

• Poor speech

  0.34

• Inability to walk by childhood/adolescence

  0.34

• Decreased activity of mitochondrial complex I

  0.34

• mitochondrial oxidative phosphorylation disorder

  0.34

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

Protein function (UniProt)