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Literature summary for 1.11.1.8 extracted from

  • Simm, D.; Pfarr, N.; Pohlenz, J.; Prawitt, D.; Doerr, H.G.
    Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children (2009), Acta Paediatr., 98, 1057-1061.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
Q446H the mutation is associated with the occurrence of congenital hypothyroidism Homo sapiens
W527C the mutation is associated with the occurrence of congenital hypothyroidism Homo sapiens
W873X the mutation is associated with the occurrence of congenital hypothyroidism Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining

Synonyms

Synonyms Comment Organism
thyroid peroxidase
-
Homo sapiens
TPO
-
Homo sapiens