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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 GH1 gene?

The official name of this gene is “growth hormone 1.”

GH1 is the gene's official symbol. The GH1 gene is also known by other names, listed below.

What is the normal function of the GH1 gene?

The GH1 gene provides instructions for making the growth hormone protein. Growth hormone is produced in the growth-stimulating somatotropic cells of the pituitary gland, which is located at the base of the brain. Growth hormone is necessary for the normal growth of the body's bones and tissues. The production of growth hormone is triggered when two other hormones are turned on (activated): ghrelin, which is produced in the stomach; and growth hormone releasing hormone, which is produced in a part of the brain called the hypothalamus. Ghrelin and growth hormone releasing hormone also stimulate the release of growth hormone from the pituitary gland. The release of growth hormone into the body peaks during puberty and reaches a low point at about age 55.

Cells in the liver respond to growth hormone and trigger the production of a protein called insulin-like growth factor-I (IGF-I). This protein stimulates cell growth and cell maturation (differentiation) in many different tissues, including bone. The production of IGF-I by the actions of growth hormone is a major contributor to the promotion of growth.

Growth hormone also plays a role in many chemical reactions (metabolic processes) in the body. By acting on specific tissues, growth hormone is involved in protein production and the breakdown (metabolism) of fats and carbohydrates.

Does the GH1 gene share characteristics with other genes?

The GH1 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 GH1 gene related to health conditions?

isolated growth hormone deficiency - caused by mutations in the GH1 gene

More than 70 mutations in the GH1 gene have been found to cause isolated growth hormone deficiency, a condition characterized by slow growth and short stature. Mutations that prevent the production of growth hormone, such as a deletion of a large section of the gene, result in isolated growth hormone deficiency type IA and severe growth failure by age 6 months. GH1 gene mutations that cause type IB are found throughout the gene and allow some growth hormone to be produced.

Most GH1 gene mutations that cause isolated growth hormone deficiency type II occur in a part of the gene called intron 3. These mutations result in the production of growth hormone that is shorter than normal. This short version of growth hormone is not released from cells and is not available to work in the body. In addition, this shorter growth hormone interferes with the function of normal growth hormone, so there is very little functional growth hormone available for use. A decrease in usable growth hormone results in the signs and symptoms of isolated growth hormone deficiency type II.

Where is the GH1 gene located?

Cytogenetic Location: 17q24.2

Molecular Location on chromosome 17: base pairs 63,917,193 to 63,918,852

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

The GH1 gene is located on the long (q) arm of chromosome 17 at position 24.2.

The GH1 gene is located on the long (q) arm of chromosome 17 at position 24.2.

More precisely, the GH1 gene is located from base pair 63,917,193 to base pair 63,918,852 on chromosome 17.

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

Where can I find additional information about GH1?

You and your healthcare professional may find the following resources about GH1 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 GH1 gene or gene products?

  • GH
  • GHN
  • GH-N
  • hGH-N
  • pituitary growth hormone
  • somatotrophin (ST)
  • somatotropin
  • somatotropin (ST)

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

What glossary definitions help with understanding GH1?

breakdown ; cell ; deficiency ; deletion ; differentiation ; gene ; GH ; growth factor ; growth hormone ; hormone ; hypothalamus ; insulin ; intron ; metabolic processes ; metabolism ; pituitary gland ; pituitary growth hormone ; protein ; puberty ; short stature ; somatotropin ; stature ; stomach

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. (
  • Hamid R, Phillips JA 3rd, Holladay C, Cogan JD, Austin ED, Backeljauw PF, Travers SH, Patton JG. A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II. J Clin Endocrinol Metab. 2009 Dec;94(12):4728-34. doi: 10.1210/jc.2009-0746. Epub 2009 Oct 16. (
  • 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 1, 2016