OTC

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Hyperammonaemia

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Undiagnosed metabolic disorders

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Childhood onset dystonia, chorea or related movement disorder

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• ornithine carbamoyltransferase deficiency

  0.87

• hereditary disease

  0.51

• Hyperammonemia

  0.39

• Abnormal circulating ornithine concentration

  0.34

• Protein avoidance

  0.34

• chronic granulomatous disease

  0.27

• Global developmental delay

  0.12

• hypotrichosis simplex

  0.11

• uncombable hair syndrome

  0.10

• Marie Unna hereditary hypotrichosis

  0.10

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

Protein function (UniProt)