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Reviewed August 2012
What is the official name of the CASR gene?
The official name of this gene is “calcium-sensing receptor.”
CASR is the gene's official symbol. The CASR gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CASR gene?
The CASR gene provides instructions for making a protein called the calcium-sensing receptor (CaSR). Calcium molecules attach (bind) to the CaSR, which allows this protein to monitor and regulate the amount of calcium in the blood. The receptor is turned on (activated) when a certain concentration of calcium is reached, and the activated receptor sends signals to block processes that increase the amount of calcium in the blood.
The CaSR is found in abundance in cells of the parathyroid glands. The parathyroid glands produce and release a hormone called parathyroid hormone that works to increase the levels of calcium in the blood. When calcium binds to the CaSR in the parathyroid glands, the production of parathyroid hormone is blocked, which prevents the release of more calcium into the blood. CaSR signaling also blocks the growth and division (proliferation) of cells that make up the parathyroid glands.
The CaSR is also found in kidney cells. Kidneys filter fluid and waste products in the body and can reabsorb needed nutrients and release them back into the blood. Calcium binding to the CaSR in kidney cells blocks the reabsorption of calcium from the filtered fluids.
How are changes in the CASR gene related to health conditions?
Where is the CASR gene located?
Cytogenetic Location: 3q13
Molecular Location on chromosome 3: base pairs 122,183,682 to 122,286,502
The CASR gene is located on the long (q) arm of chromosome 3 at position 13.
More precisely, the CASR gene is located from base pair 122,183,682 to base pair 122,286,502 on chromosome 3.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CASR?
You and your healthcare professional may find the following resources about CASR helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the CASR gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CASR?
acids ; autosomal ; autosomal dominant ; Ca ; calcium ; cell ; extracellular ; familial ; gene ; hormone ; hypercalcemia ; hyperparathyroidism ; hypertension ; kidney ; kidney stones ; mutation ; neonatal ; neurological ; osteoporosis ; parathyroid ; proliferate ; proliferation ; protein ; receptor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
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? in the Handbook.