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Article

Thyroglobulin gene mutations in congenital hypothyroidism.

Hormone research in paediatrics - 1 Jan 2011

Targovnik Héctor M, Citterio Cintia E, Rivolta Carina M

Abstract excerpt

Human thyroglobulin (TG) gene is a single copy gene, 270 kb long, that maps on chromosome 8q24.2-8q24.3 and contains an 8.5-kb coding sequence divided into 48 exons. TG is exclusively synthesized in the thyroid gland and represents a highly specialized homodimeric glycoprotein for thyroid hormone biosynthesis. Mutations in the TG gene lead to permanent congenital hypothyroidism. The presence of low TG level and...

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PMID: 21372558
DOI: 10.1159/000324882

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