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GHR gene

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

GHR gene

The GHR gene provides instructions for making the growth hormone receptor, which allows cells to respond to growth hormone and regulate growth and metabolism.

Normal Function

The GHR gene provides instructions for making the growth hormone receptor, a protein embedded in the outer membrane of cells, most abundantly in the liver. The receptor has three parts: an extracellular region that binds to growth hormone, a transmembrane region that anchors it to the cell, and an intracellular region that transmits signals to the cell interior. This signaling stimulates cell growth and division and triggers the production of insulin-like growth factor I (IGF-I).

There are two major versions (isoforms) of the receptor: the full-length isoform (fl-GHR), which includes a segment known as exon 3, and the exon 3-deficient isoform (d3-GHR). While both bind growth hormone, d3-GHR is associated with enhanced signaling within cells.

Health Conditions Related to Genetic Changes

Laron syndrome

At least 70 mutations in the GHR gene cause Laron syndrome, a rare form of short stature characterized by obesity and distinctive facial features. These mutations impair the receptor's function, preventing it from binding to growth hormone or triggering growth signals. This leads to growth hormone insensitivity. Despite having obesity, individuals with Laron syndrome have a significantly reduced risk of cancer and type 2 diabetes, likely due to increased insulin sensitivity and altered cell growth signaling.

Other disorders

The two isoforms of the growth hormone receptor have been studied in various growth disorders, including growth hormone deficiency and idiopathic short stature. In children with these conditions, d3-GHR has been associated with faster growth during treatment compared to fl-GHR. In adults with acromegaly (a disorder caused by excess growth hormone), the d3-GHR isoform is associated with a better response to treatment but may increase the risk of certain long-term complications.

Other Names for This Gene

  • GH receptor
  • GHBP
  • GHR_HUMAN
  • growth hormone binding protein
  • serum binding protein
  • somatotropin receptor

Frequently Asked Questions

Yes. If a child’s height is well below the normal range despite normal serum growth‑hormone, clinicians often order genetic testing for GHR mutations to rule out Laron syndrome (growth‑hormone insensitivity). A blood sample is sent for sequencing of the GHR coding regions, including exon 3, and the results guide treatment decisions.
The d3‑GHR isoform is linked to slightly stronger intracellular signaling after growth‑hormone binding. In several studies, children with the d3‑GHR allele grew faster during recombinant growth‑hormone treatment than those with the full‑length allele. Your endocrinologist may consider a slightly lower starting dose, but dosing is still individualized based on growth response and side‑effect monitoring.
Laron syndrome is inherited in an autosomal‑recessive manner. Both parents must carry one defective GHR copy; each subsequent child has a 25 % chance of being affected, a 50 % chance of being a carrier, and a 25 % chance of having two normal copies. If a sibling is affected, carrier testing of other children is offered, and prenatal or pre‑implantation genetic testing can be discussed for future pregnancies.
Even though epidemiologic data suggest reduced cancer and type‑2‑diabetes incidence, adults with GHR mutations can still develop metabolic issues such as dyslipidemia, obesity, and osteoporosis due to altered IGF‑I signaling. Regular monitoring of blood glucose, lipid profile, bone density, and liver function is recommended, along with lifestyle measures (balanced diet, weight‑bearing exercise) to mitigate these risks.
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.