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


Reviewed February 2012

What is the official name of the GHRHR gene?

The official name of this gene is “growth hormone releasing hormone receptor.”

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

What is the normal function of the GHRHR gene?

The GHRHR gene provides instructions for making the growth hormone releasing hormone receptor. This receptor is active (expressed) on the growth-stimulating somatotropic cells in the pituitary gland. This gland is is located at the base of the brain and produces many hormones, including growth hormone. Growth hormone is necessary for the normal growth of the body's bones and tissues. The GHRHR receptor attaches (binds) to a molecule called growth hormone releasing hormone. This binding, along with the actions of other molecules, triggers the production of growth hormone and its release from the pituitary gland.

Does the GHRHR gene share characteristics with other genes?

The GHRHR gene belongs to a family of genes called GPCR (G protein-coupled receptors).

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 GHRHR gene related to health conditions?

isolated growth hormone deficiency - caused by mutations in the GHRHR gene

More than 20 mutations in the GHRHR gene have been found to cause isolated growth hormone deficiency, a condition characterized by slow growth and short stature. Mutations in the GHRHR gene cause some cases of isolated growth hormone deficiency type IB. Most of these mutations replace single protein building blocks (amino acids) in the receptor protein, preventing the production of a functional receptor. A nonfunctional receptor cannot effectively trigger the production of growth hormone or signal its release from the pituitary gland. As a result, little growth hormone is produced or available in the body in people with GHRHR gene mutations, leading to isolated growth hormone deficiency type IB.

Where is the GHRHR gene located?

Cytogenetic Location: 7p14

Molecular Location on chromosome 7: base pairs 30,964,021 to 30,979,531

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

The GHRHR gene is located on the short (p) arm of chromosome 7 at position 14.

The GHRHR gene is located on the short (p) arm of chromosome 7 at position 14.

More precisely, the GHRHR gene is located from base pair 30,964,021 to base pair 30,979,531 on chromosome 7.

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

Where can I find additional information about GHRHR?

You and your healthcare professional may find the following resources about GHRHR 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 GHRHR gene or gene products?

  • GHRH receptor
  • GRFR
  • GRF receptor
  • growth hormone-releasing factor receptor
  • growth hormone-releasing hormone receptor

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

What glossary definitions help with understanding GHRHR?

acids ; deficiency ; expressed ; gene ; growth hormone ; hormone ; molecule ; pituitary gland ; protein ; receptor ; short stature ; stature

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


  • Alatzoglou KS, Dattani MT. Genetic causes and treatment of isolated growth hormone deficiency-an update. Nat Rev Endocrinol. 2010 Oct;6(10):562-76. doi: 10.1038/nrendo.2010.147. Review. (
  • Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, Aylwin S, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, Banerjee K, Sinha SK, Ten S, Mushtaq T, Brauner R, Cheetham TD, Hindmarsh PC, Mullis PE, Dattani MT. Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. J Clin Endocrinol Metab. 2009 Sep;94(9):3191-9. doi: 10.1210/jc.2008-2783. Epub 2009 Jun 30. (
  • Lin-Su K, Wajnrajch MP. Growth Hormone Releasing Hormone (GHRH) and the GHRH Receptor. Rev Endocr Metab Disord. 2002 Dec;3(4):313-23. Review. (
  • Mullis PE. Genetic control of growth. Eur J Endocrinol. 2005 Jan;152(1):11-31. Review. (
  • Mullis PE. Genetics of isolated growth hormone deficiency. J Clin Res Pediatr Endocrinol. 2010;2(2):52-62. doi: 10.4274/jcrpe.v2i2.52. Epub 2010 May 1. Review. (
  • NCBI Gene (


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: February 2012
Published: February 8, 2016