What is the Origin of Growth Hormone Receptor Gene?

This terminology is fundamental to molecular endocrinology and genetics, locating the blueprint for a key component of the somatotropic axis, the body's growth regulation system. The GHR gene is located on chromosome 5 in humans, and its discovery was essential for understanding the cellular mechanisms of GH action. Its study is vital for diagnosing conditions related to GH insensitivity, such as Laron syndrome, and for understanding individual differences in growth and aging.

What is the Mechanism of Growth Hormone Receptor Gene?

The GHR gene is transcribed into messenger RNA (mRNA), which is then translated into the GHR protein, subsequently inserted into the cell membrane of target tissues like the liver and muscle. Upon binding of GH to the extracellular domain of two GHR molecules, the receptors rapidly dimerize, triggering a potent intracellular signaling cascade, primarily through the JAK2-STAT pathway. This activation ultimately modulates gene expression, leading to the production of mediators like Insulin-like Growth Factor 1 (IGF-1), which drives growth and systemic metabolic changes.

Growth Hormone Receptor Gene ∞ Area

Growth Hormone Receptor Gene

Meaning

The Growth Hormone Receptor Gene (GHR gene) is the specific segment of DNA that provides the precise instructions for synthesizing the Growth Hormone Receptor (GHR) protein. This gene is critically important as the GHR is the cell surface protein responsible for binding circulating Growth Hormone (GH) and initiating its profound downstream biological effects on growth and metabolism. Variations or mutations within the GHR gene can significantly alter an individual’s sensitivity to GH, impacting growth trajectory, body composition, and metabolic health throughout the lifespan.