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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed September 2015

What is the official name of the TSHB gene?

The official name of this gene is “thyroid stimulating hormone beta.”

TSHB is the gene's official symbol. The TSHB gene is also known by other names, listed below.

What is the normal function of the TSHB gene?

The 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.

Does the TSHB gene share characteristics with other genes?

The TSHB gene belongs to a family of genes called endogenous ligands (endogenous ligands).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? ( in the Handbook.

How are changes in the TSHB gene related to health conditions?

congenital hypothyroidism - caused by mutations in the TSHB gene

Researchers have identified at least 10 TSHB gene mutations involved in congenital hypothyroidism, a condition characterized by abnormally low levels of thyroid hormones starting from birth. TSHB gene mutations are the primary cause of a form of the condition called central congenital hypothyroidism, which occurs when stimulation of thyroid hormone production by the pituitary gland is impaired.

TSHB gene mutations involved in congenital hypothyroidism alter the size or shape of the thyroid stimulating hormone beta subunit. Many of the mutations affect the beta subunit's seatbelt region. Some mutations severely shorten the beta subunit, eliminating the seatbelt region partially or entirely. Other mutations change the protein building blocks (amino acids) used to make the beta subunit. As a result, the seatbelt region cannot buckle around the alpha subunit. TSHB gene mutations prevent the production of functional thyroid stimulating hormone or its release (secretion) from the pituitary gland. As a result, thyroid hormone production is not stimulated, leading to low hormone levels that are characteristic of congenital hypothyroidism. Additionally, the thyroid gland is reduced in size (hypoplastic) because its growth is not stimulated.

Where is the TSHB gene located?

Cytogenetic Location: 1p13

Molecular Location on chromosome 1: base pairs 115,029,824 to 115,034,309

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The TSHB gene is located on the short (p) arm of chromosome 1 at position 13.

The TSHB gene is located on the short (p) arm of chromosome 1 at position 13.

More precisely, the TSHB gene is located from base pair 115,029,824 to base pair 115,034,309 on chromosome 1.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about TSHB?

You and your healthcare professional may find the following resources about TSHB helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TSHB gene or gene products?

  • thyroid stimulating hormone, beta
  • thyrotropin beta chain precursor
  • thyrotropin beta subunit

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding TSHB?

acids ; congenital ; gene ; hormone ; hypothyroidism ; metabolism ; pituitary gland ; precursor ; protein ; secretion ; subunit ; thyroid ; thyroid hormones ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Deladoëy J, Vuissoz JM, Domené 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. (
  • 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. (
  • NCBI Gene (
  • 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. Review. (
  • 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. (
  • Ramos HE, Labedan I, Carré 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, Deladoëy 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. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: September 2015
Published: February 8, 2016