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The official name of this gene is “growth hormone releasing hormone receptor.”
GHRHR is the gene's official symbol. The GHRHR gene is also known by other names, listed below.
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.
The GHRHR gene belongs to a family of genes called GPCR (G protein-coupled receptors).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
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
Molecular Location on chromosome 7: base pairs 30,964,020 to 30,979,530
The GHRHR gene is located on the short (p) arm of chromosome 7 at position 14.
More precisely, the GHRHR gene is located from base pair 30,964,020 to base pair 30,979,530 on chromosome 7.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about GHRHR helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; deficiency ; expressed ; gene ; growth hormone ; hormone ; molecule ; pituitary gland ; protein ; receptor ; short stature ; stature
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.