Dec 25, 2024 · GHR (Growth Hormone Receptor) is a Protein Coding gene. Diseases associated with GHR include Laron Syndrome and Growth Hormone Insensitivity, Partial . Among its related pathways are Endochondral ossification with skeletal dysplasias and PI3K-Akt signaling pathway .

The GHR gene provides instructions for making a protein called the growth hormone receptor. This receptor is embedded in the outer membrane of cells throughout the body and is most abundant in liver cells.

Growth hormone receptor (GHR) is a transmembrane protein consisting of 620 amino acids. The receptor is part of the Type I cytokine receptor family of receptors. GHR exists in two forms as a full length membrane-bound receptor and as a soluble GH binding protein (GHBP).

Dec 10, 2024 · This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth.

Results support the role of GHR gene polymorphisms in modulating adiposity and IGF-I activity in adolescents. The growth hormone receptor: mechanism of activation and clinical implications. The exon 3 deletion in the GHR predicts an improved response to pegvisomant therapy in acromegaly.

Mar 16, 2018 · In this Review, we describe the history of GH research and clinical use with a particular focus on disorders in childhood. The great complexity of the growth hormone (GH)–insulin-like growth factor...

Sep 19, 2024 · This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth.

The GHR signaling pathway plays important roles in growth, metabolism, cell cycle control, immunity, homeostatic processes, and chemoresistance via both the JAK/STAT and the SRC pathways. Dysregulation of GHR signaling is associated with various ...

GH plays an essential role in the growing child by binding to the growth hormone receptor (GHR) on target cells and regulating multiple growth promoting and metabolic effects. Mutations in the GHR gene coding regions result in GH insensitivity (dwarfism) due to …

Mutations in the GHR gene were found to cause a body height below −2 SD, from the mean for sex and age, whereas the mutations in the IGF1R gene were associated with low body height and intrauterine growth restriction (IUGR), and with being born SGA.