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GH1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

GH1 gene

The GH1 gene provides instructions for making growth hormone, a protein essential for the normal development of bones and tissues throughout the body.

Normal Function

The GH1 gene provides instructions for making the growth hormone protein. Growth hormone is produced in the somatotropic cells of the pituitary gland. Its production is triggered by ghrelin (produced in the stomach) and growth hormone releasing hormone (produced in the hypothalamus). The release of growth hormone peaks during puberty and reaches a low point at about age 55.

Cells in the liver respond to growth hormone by triggering the production of insulin-like growth factor-I (IGF-I). This protein stimulates cell growth and maturation in many tissues, including bone. Growth hormone also plays a role in metabolic processes, including protein production and the breakdown of fats and carbohydrates.

Health Conditions Related to Genetic Changes

Isolated growth hormone deficiency

More than 70 mutations in the GH1 gene have been found to cause isolated growth hormone deficiency, characterized by slow growth and short stature.

  • Type IA: Mutations that prevent the production of growth hormone, such as large gene deletions, result in severe growth failure by age 6 months.
  • Type IB: Mutations found throughout the gene that allow some growth hormone to be produced.
  • Type II: Most mutations occur in a part of the gene called intron 3. These result in the production of a shorter-than-normal growth hormone that is not released from cells. This shorter version interferes with the function of normal growth hormone, leading to a decrease in usable hormone.

Other Names for This Gene

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

Frequently Asked Questions

dults with proven GH deficiency may receive rhGH to improve body composition, bone density, and quality of life. Treatment is individualized, starting at low doses and titrating to maintain IGF‑I within the age‑adjusted normal range. Risks include edema, joint pain, insulin resistance, and rare neoplastic concerns; therefore, periodic screening for glucose intolerance and malignancy is advised.
Diagnosis combines clinical assessment (height <‑2 SD for age, growth velocity <‑1 SD) with biochemical testing. A provocative stimulation test (e.g., insulin‑induced hypoglycemia, arginine, clonidine) that fails to raise serum GH above 10 ng/mL suggests deficiency. Confirmatory genetic testing of the GH1 gene identifies pathogenic variants.
Recombinant human growth hormone (rhGH) therapy is the standard of care, administered daily via subcutaneous injection. Doses are weight‑based (0.025–0.035 mg/kg/day) and adjusted according to growth response and IGF‑I levels. Regular monitoring includes height, bone age, glucose tolerance, and thyroid function.
Most GH1 mutations causing isolated deficiency are inherited in an autosomal recessive manner, though some are dominant negative. If both parents are carriers (recessive), each child has a 25 % chance of being affected, a 50 % chance of being a carrier, and a 25 % chance of being unaffected. If a parent carries a dominant mutation, there is a 50 % chance of transmission. Targeted genetic testing of siblings can clarify carrier status and guide counseling.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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