thyroid stimulating hormone subunit beta
Ultimo aggiornamento 21 Jun 2022
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L TSHB gene provides instructions for one piece (subunit) of a hormone called thyroid stimulating hormone (TSH). Thyroid stimulating hormone consists of two subunits called alpha and beta. The TSHB gene provides instructions for making the beta subunit. The alpha and beta subunits are bound together to produce the active form of the hormone. A particular segment of the beta subunit, known as the buckle or seatbelt, wraps around the alpha subunit to form the active hormone. This seatbelt region also helps stabilize the hormone's structure.
Normal function
L TSHB gene provides instructions for one piece (subunit) of a hormone called thyroid stimulating hormone (TSH). Thyroid stimulating hormone consists of two subunits called alpha and beta. The TSHB gene provides instructions for making the beta subunit. The alpha and beta subunits are bound together to produce the active form of the hormone. A particular segment of the beta subunit, known as the buckle or seatbelt, wraps around the alpha subunit to form the active hormone. This seatbelt region also helps stabilize the hormone's structure.
Thyroid stimulating hormone is made in the pituitary gland, a gland at the base of the brain. This hormone plays an important role in the growth and function of the thyroid gland, a butterfly-shaped tissue in the lower neck. It also stimulates the production of thyroid hormones, which play a critical role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). The pituitary gland monitors levels of thyroid hormones. When thyroid hormone levels are too low, the pituitary gland releases thyroid stimulating hormone into the bloodstream. Thyroid stimulating hormone, in turn, signals increased thyroid gland growth and production of thyroid hormones.
Conditions referring to this gene or chromosome
Altri nomi
thyroid stimulating hormone, beta
thyrotropin beta chain precursor
thyrotropin beta subunit
TSH-BETA
TSHB_HUMAN
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Ulteriori letture e riferimenti
- thyroid stimulating hormone subunit beta; MedlinePlus, National Library of Medicine.
- Deladoey J, Vuissoz JM, Domene HM, Malik N, Gruneiro-Papendieck L, Chiesa A, Heinrich JJ, Mullis PE. Congenital secondary hypothyroidism due to a mutation C105Vfs114X thyrotropin-beta mutation: genetic study of five unrelated families from Switzerland and Argentina. Thyroid. 2003 Jun;13(6):553-9. doi: 10.1089/105072503322238818.
- Medeiros-Neto G, Herodotou DT, Rajan S, Kommareddi S, de Lacerda L, Sandrini R, Boguszewski MC, Hollenberg AN, Radovick S, Wondisford FE. A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene. J Clin Invest. 1996 Mar 1;97(5):1250-6. doi: 10.1172/JCI118540.
- Partsch CJ, Riepe FG, Krone N, Sippell WG, Pohlenz J. Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature. Exp Clin Endocrinol Diabetes. 2006 May;114(5):227-34. doi: 10.1055/s-2006-924232.
- Pohlenz J, Dumitrescu A, Aumann U, Koch G, Melchior R, Prawitt D, Refetoff S. Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. J Clin Endocrinol Metab. 2002 Jan;87(1):336-9. doi: 10.1210/jcem.87.1.8154.
- Ramos HE, Labedan I, Carre A, Castanet M, Guemas I, Tron E, Madhi F, Delacourt C, Maciel RM, Polak M. New cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screening. Thyroid. 2010 Jun;20(6):639-45. doi: 10.1089/thy.2009.0462.
- Vuissoz JM, Deladoey J, Buyukgebiz A, Cemeroglu P, Gex G, Gallati S, Mullis PE. New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism. J Clin Endocrinol Metab. 2001 Sep;86(9):4468-71. doi: 10.1210/jcem.86.9.7876.
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