Literature summary for 1.11.1.8 extracted from

Rivolta, C.M.; Louis-Tisserand, M.; Varela, V.; Gruneiro-Papendieck, L.; Chiesa, A.; Gonzalez-Sarmiento, R.; Targovnik, H.M.
Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect (2007), Clin. Endocrinol. (Oxf.), 67, 238-246.

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Application

Application	Comment	Organism
medicine	two patients with iodide organification defect caused by two compound heterozygous mutations, c.215delA/c.2422T-->C [p.Q72fsX86/p.C808R] and c.387delC/c.1159G-->A [p.N129fsX208/p.G387R], in the TPO gene and four patients with monoallelic TPO defect. Identification of the molecular basis of this disorder might be helpful for understanding the pathophysiology of congenital hypothyroidism	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	two patients with iodide organification defect caused by two compound heterozygous mutations, c.215delA/c.2422T-->C [p.Q72fsX86/p.C808R] and c.387delC/c.1159G-->A [p.N129fsX208/p.G387R], in the TPO gene and four patients with monoallelic TPO defect. Identification of the molecular basis of this disorder might be helpful for understanding the pathophysiology of congenital hypothyroidism	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)