Literature summary for 1.6.3.1 extracted from

Pfarr, N.; Korsch, E.; Kaspers, S.; Herbst, A.; Stach, A.; Zimmer, C.; Pohlenz, J.
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene (2006), Clin. Endocrinol. (Oxf.), 65, 810-815.

Search for more literature for 1.6.3.1

Application

Application	Comment	Organism
medicine	mutations in enzyme gene should be considered as the molecular cause of congenital hypothyroidism in young patients with thyroid dyshormogenesis	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
D506N	heterozygous mutation isolating in clinically unaffected mother and in a brother, while the patient suffering congenital hypothyroidism additionally carries heterozygous mutation ins602g to fsX300	Homo sapiens
additional information	identification of heterozygous mutation in enzyme gene leading to premature stop at codon 300 and resulting in primary hypothyroidism	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	isoform THOX2, patients with congenital thyroidism	-

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Release 2023.1 (January 2023)