The TSH receptor gene (TSHR) encodes a transmembrane receptor present on the surface of follicular cells which mediates the effects of TSH secreted by the anterior pituitary and is critical for the development and function of the thyroid gland. The human TSHR gene is located on chromosome 14q31 and the extracellular domain of the receptor is encoded by nine exons, whereas the transmembrane and intracellular portions are encoded by a single large exon.
Organification defects leading to goitrous congenital hypothyroidism are now well known to have an autosomal recessive genetic basis.
