TRMU

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial liver disease, including transient infantile liver failure

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

  0.79

• Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure

  0.68

• deafness, aminoglycoside-induced

  0.60

• neurodegenerative disease

  0.49

• hereditary disease

  0.47

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• Mitochondrial non-syndromic sensorineural deafness

  0.37

• mitochondrial myopathy with reversible cytochrome C oxidase deficiency

  0.37

• Sjogren syndrome

  0.35

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

Protein function (UniProt)