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AVP

AVP

Reviewed April 2010

What is the official name of the AVP gene?

The official name of this gene is “arginine vasopressin.”

AVP is the gene's official symbol. The AVP 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 AVP gene?

The AVP gene provides instructions for making a hormone called vasopressin or antidiuretic hormone (ADH). ADH starts out as a larger molecule called a preprohormone, which is cut (cleaved) and modified to produce the active hormone and several related proteins. The preprohormone is made in a region of the brain called the hypothalamus. It is then transported to the nearby pituitary gland, where active ADH is stored until it is needed.

The major function of ADH is to help control the body's water balance by determining how much water is excreted in urine. Normally, when a person's fluid intake is low or when a lot of fluid is lost (for example, through sweating), the pituitary gland releases more ADH into the bloodstream. High levels of this hormone direct the kidneys to reabsorb more water and to make less urine. When fluid intake is adequate, the pituitary gland releases less ADH. Lower levels of this hormone cause the kidneys to reabsorb less water and to make more urine.

Does the AVP gene share characteristics with other genes?

The AVP gene belongs to a family of genes called endogenous ligands (endogenous ligands).

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 AVP gene related to health conditions?

neurohypophyseal diabetes insipidus - caused by mutations in the AVP gene

At least 60 mutations in the AVP gene have been found to cause neurohypophyseal diabetes insipidus. Most of these mutations change single protein building blocks (amino acids) in the preprohormone or result in the production of an abnormally short version of this molecule. Studies suggest that the altered preprohormone becomes trapped inside the cells where it is produced instead of being transported to the pituitary gland. As the defective molecule builds up over time, it damages and ultimately kills these cells. The resulting shortage of ADH prevents the kidneys from reabsorbing water as they should, and the body makes excessive amounts of urine. These problems with water balance are characteristic of neurohypophyseal diabetes insipidus.

Where is the AVP gene located?

Cytogenetic Location: 20p13

Molecular Location on chromosome 20: base pairs 3,082,554 to 3,093,520

The AVP gene is located on the short (p) arm of chromosome 20 at position 13.

The AVP gene is located on the short (p) arm of chromosome 20 at position 13.

More precisely, the AVP gene is located from base pair 3,082,554 to base pair 3,093,520 on chromosome 20.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about AVP?

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

  • ADH
  • antidiuretic hormone
  • ARVP
  • AVP-NPII
  • AVRP
  • NEU2_HUMAN
  • neurohypophyseal
  • vasopressin-neurophysin 2-copeptin
  • vasopressin-neurophysin 2-copeptin preproprotein
  • vasopressin-neurophysin II-copeptin
  • VP

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 AVP?

acids ; arginine ; diabetes ; gene ; hormone ; hypothalamus ; molecule ; pituitary gland ; protein

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

See also Understanding Medical Terminology.

References (9 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.

 
Reviewed: April 2010
Published: June 1, 2015