Thyroid-Stimulating Hormone Receptor
Thyroid-Stimulating Hormone Receptor gene is mapped on chromosome 14q31 that serves a large part of the receptor sites on the outer surface of the cell. It is a portion wherein thyroid stimulating hormone binds and activates a series of reactions that controls development of the thyroid gland and its functions which produces iodine-containing hormones to regulate growth, brain development and the speed of chemical reactions in the body.
Thyroid-Stimulating Hormone Receptor is implicated in congenital hypothyroidism in which there is a change or alteration of one or more amino acids used that prevent the receptor from properly spanning the membrane and in various cases the entire receptor keep hold inside the cell, as a result the receptor cannot properly interact with thyroid stimulating hormone.
Thyroid-Stimulating Hormone Receptor gene mutations involved in autoimmune disorders in which the body’s immune response turns against itself and is triggered by genetic and environmental factors including the production of immunoglobulins. Individual having this disorder has autoantibodies that lead to continuous stimulation and overproduction of thyroid hormones.
Gene name: TSHR
Protein name: Thyrotropin receptor