jueves, 26 de febrero de 2015

MC2R - melanocortin 2 receptor (adrenocorticotropic hormone) - Genetics Home Reference

MC2R - melanocortin 2 receptor (adrenocorticotropic hormone) - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the MC2R gene?

The official name of this gene is “melanocortin 2 receptor (adrenocorticotropic hormone).”
MC2R is the gene's official symbol. The MC2R 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 MC2R gene?

The MC2R gene provides instructions for making a protein called adrenocorticotropic hormone (ACTH) receptor. This protein is found primarily in the adrenal glands, which are hormone-producing glands located on top of each kidney. The ACTH receptor is embedded in the membrane of cells where it attaches (binds) to ACTH. ACTH is a hormone that is released by the pituitary gland, located at the base of the brain. The binding of ACTH to its receptor triggers the adrenal glands to produce a group of hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body.
The ACTH receptor also likely plays a role in the development of the adrenal glands before birth.

Does the MC2R gene share characteristics with other genes?

The MC2R 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? in the Handbook.

How are changes in the MC2R gene related to health conditions?

familial glucocorticoid deficiency - caused by mutations in the MC2R gene
More than 40 mutations in the MC2R gene have been found to cause familial glucocorticoid deficiency. This condition is characterized by potentially life-threatening low blood sugar (hypoglycemia), recurrent infections, and skin coloring darker than that of other family members (hyperpigmentation). MC2R gene mutations account for approximately 25 percent of cases of this condition. Most of these mutations change single protein building blocks (amino acids) in the ACTH receptor. As a result, the receptor cannot be transported to the cell membrane or bind to ACTH. Without the binding of the ACTH receptor to its hormone, there is no signal to trigger the adrenal glands to produce glucocorticoids. A shortage of these hormones impairs blood sugar regulation, immune system function, and other cellular functions, leading to the signs and symptoms of familial glucocorticoid deficiency.

Where is the MC2R gene located?

Cytogenetic Location: 18p11.2
Molecular Location on chromosome 18: base pairs 13,882,043 to 13,915,535
The MC2R gene is located on the short (p) arm of chromosome 18 at position 11.2.
The MC2R gene is located on the short (p) arm of chromosome 18 at position 11.2.
More precisely, the MC2R gene is located from base pair 13,882,043 to base pair 13,915,535 on chromosome 18.

Where can I find additional information about MC2R?

You and your healthcare professional may find the following resources about MC2R 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 MC2R gene or gene products?

  • ACTH receptor
  • adrenocorticotropic hormone receptor
  • adrenocorticotropin receptor
  • corticotropin receptor
  • MC2 receptor

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 MC2R?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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

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