APRT

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Nephrocalcinosis or nephrolithiasis

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• adenine phosphoribosyltransferase deficiency

  0.81

• neurodegenerative disease

  0.40

• pathological myopia

  0.26

• chronic kidney disease

  0.24

• hereditary disease

  0.19

• stage 5 chronic kidney disease

  0.19

• interstitial nephritis

  0.19

• nephronophthisis

  0.10

• familial idiopathic steroid-resistant nephrotic syndrome

  0.10

• focal segmental glomerulosclerosis

  0.09

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

Protein function (UniProt)