GHRHR

growth hormone releasing hormone receptor

The GHRHR gene provides instructions for making the growth hormone releasing hormone receptor. This receptor is active (expressed) on the growth-stimulating somatotropic cells in the pituitary gland. This gland is is located at the base of the brain and produces many hormones, including growth hormone. Growth hormone is necessary for the normal growth of the body's bones and tissues. The GHRHR receptor attaches (binds) to a molecule called growth hormone releasing hormone. This binding, along with the actions of other molecules, triggers the production of growth hormone and its release from the pituitary gland.

More than 20 mutations in the GHRHR gene have been found to cause isolated growth hormone deficiency, a condition characterized by slow growth and short stature. Mutations in the GHRHR gene cause some cases of isolated growth hormone deficiency type IB. Most of these mutations replace single protein building blocks (amino acids) in the receptor protein, preventing the production of a functional receptor. A nonfunctional receptor cannot effectively trigger the production of growth hormone or signal its release from the pituitary gland. As a result, little growth hormone is produced or available in the body in people with GHRHR gene mutations, leading to isolated growth hormone deficiency type IB.

Cytogenetic Location: 7p14, which is the short (p) arm of chromosome 7 at position 14

Molecular Location: base pairs 30,964,021 to 30,979,531 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p14, which is the short (p) arm of chromosome 7 at position 14
  • GHRFR
  • GHRH receptor
  • GHRHR_HUMAN
  • GRF receptor
  • GRFR
  • growth hormone-releasing factor receptor
  • growth hormone-releasing hormone receptor