Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1
Vivi Li
 + 423 word(s) 423 2020-12-15 07:54:35

Video Upload Options

We provide professional Video Production Services to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes

Confirm

Are you sure to Delete?
Yes No
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Li, V. GH1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5650 (accessed on 23 January 2025).
Li V. GH1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5650. Accessed January 23, 2025.
Li, Vivi. "GH1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5650 (accessed January 23, 2025).
Li, V. (2020, December 25). GH1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5650
Li, Vivi. "GH1 Gene." Encyclopedia. Web. 25 December, 2020.
GH1 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/gh1

Growth hormone 1

genes

1. Normal Function

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.

2. Health Conditions Related to Genetic Changes

2.1 Isolated Growth Hormone Deficiency

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.

3. Other Names for This Gene

  • GH

  • GH-N

  • GHN

  • hGH-N

  • pituitary growth hormone

  • SOMA_HUMAN

  • somatotrophin (ST)

  • somatotropin

  • somatotropin (ST)

References

  1. Alatzoglou KS, Dattani MT. Genetic causes and treatment of isolated growthhormone deficiency-an update. Nat Rev Endocrinol. 2010 Oct;6(10):562-76. doi:10.1038/nrendo.2010.147. Review.
  2. Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, AylwinS, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, BanerjeeK, 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: geneticscreening in a large cohort of patients with congenital isolated growth hormonedeficiency. J Clin Endocrinol Metab. 2009 Sep;94(9):3191-9. doi:10.1210/jc.2008-2783.
  3. 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 ofisolated growth hormone deficiency type II. J Clin Endocrinol Metab. 2009Dec;94(12):4728-34. doi: 10.1210/jc.2009-0746.
  4. Mullis PE. Genetic control of growth. Eur J Endocrinol. 2005 Jan;152(1):11-31.Review.
  5. Mullis PE. Genetics of isolated growth hormone deficiency. J Clin Res Pediatr Endocrinol. 2010;2(2):52-62. doi: 10.4274/jcrpe.v2i2.52.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Vivi Li
View Times: 804
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 25 Dec 2020
Table of Contents
    1000/1000
    Hot Most Recent
    Video Production Service
    Feedback