MTPAP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Likely inborn error of metabolism

  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

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• spastic ataxia 4

  0.60

• Autosomal recessive spastic ataxia - optic atrophy - dysarthria

  0.52

• neurodegenerative disease

  0.52

• mitochondrial disease

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• ovarian dysfunction

  0.28

• spastic ataxia

  0.27

• hereditary disease

  0.19

• lysosomal storage disease

  0.16

• Retinal dystrophy

  0.11

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

Protein function (UniProt)