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AVP gene
URL of this page: https://medlineplus.gov/genetics/gene/avp/

AVP gene

arginine vasopressin

Normal Function

The AVP gene provides instructions for making a hormone called arginine vasopressin (AVP), which is sometimes also called antidiuretic hormone (ADH). AVP starts out as a larger molecule called a preprohormone that 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 AVP is stored until it is needed.

The major function of AVP is to help control the body's water balance by determining how much water is released 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 AVP into the bloodstream. High levels of this hormone direct the kidneys to reabsorb more water and make less urine. When fluid intake is adequate, the pituitary gland releases less AVP.

Health Conditions Related to Genetic Changes

Arginine vasopressin deficiency

Many variants (also called mutations) in the AVP gene have been found to cause arginine vasopressin deficiency. People with this condition produce an excessive amount of urine (polyuria), which depletes the amount of water in the body. This water loss also leads to excessive thirst (polydipsia). 

Some of the AVP gene variants that cause arginine vasopressin deficiency change single protein building blocks (amino acids) in the preprohormone. Other variants cause the cell to produce an abnormally short version of this molecule. The altered preprohormone becomes trapped inside the cells where it is produced instead of being transported to the pituitary gland. The resulting shortage of AVP prevents the kidneys from reabsorbing water, and the body makes excessive amounts of urine. These problems with water balance are characteristic of arginine vasopressin deficiency.

More About This Health Condition

Other Names for This Gene

  • ADH
  • ARVP
  • AVP-NPII
  • AVRP
  • NEU2_HUMAN
  • VP

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Angelousi A, Alexandraki KI, Mytareli C, Grossman AB, Kaltsas G. New developments and concepts in the diagnosis and management of diabetes insipidus (AVP-deficiency and resistance). J Neuroendocrinol. 2023 Jan;35(1):e13233. doi: 10.1111/jne.13233. Epub 2023 Jan 22. Citation on PubMed
  • Christensen JH, Rittig S. Familial neurohypophyseal diabetes insipidus--an update. Semin Nephrol. 2006 May;26(3):209-23. doi: 10.1016/j.semnephrol.2006.03.003. Citation on PubMed
  • Christensen JH, Siggaard C, Corydon TJ, deSanctis L, Kovacs L, Robertson GL, Gregersen N, Rittig S. Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis. Eur J Hum Genet. 2004 Jan;12(1):44-51. doi: 10.1038/sj.ejhg.5201086. Citation on PubMed
  • Grant FD, Ahmadi A, Hosley CM, Majzoub JA. Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant. J Clin Endocrinol Metab. 1998 Nov;83(11):3958-64. doi: 10.1210/jcem.83.11.5278. Citation on PubMed
  • Ito M, Mori Y, Oiso Y, Saito H. A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. J Clin Invest. 1991 Feb;87(2):725-8. doi: 10.1172/JCI115052. Citation on PubMed or Free article on PubMed Central
  • Nagasaki H, Ito M, Yuasa H, Saito H, Fukase M, Hamada K, Ishikawa E, Katakami H, Oiso Y. Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus. J Clin Endocrinol Metab. 1995 Apr;80(4):1352-6. doi: 10.1210/jcem.80.4.7714110. Citation on PubMed
  • Refardt J, Atila C, Christ-Crain M. New insights on diagnosis and treatment of AVP deficiency. Rev Endocr Metab Disord. 2024 Jun;25(3):639-649. doi: 10.1007/s11154-023-09862-w. Epub 2023 Dec 13. Citation on PubMed
  • Repaske DR, Summar ML, Krishnamani MR, Gultekin EK, Arriazu MC, Roubicek ME, Blanco M, Isaac GB, Phillips JA 3rd. Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab. 1996 Jun;81(6):2328-34. doi: 10.1210/jcem.81.6.8964872. Citation on PubMed
  • Rittig S, Robertson GL, Siggaard C, Kovacs L, Gregersen N, Nyborg J, Pedersen EB. Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am J Hum Genet. 1996 Jan;58(1):107-17. Citation on PubMed or Free article on PubMed Central
  • Siggaard C, Rittig S, Corydon TJ, Andreasen PH, Jensen TG, Andresen BS, Robertson GL, Gregersen N, Bolund L, Pedersen EB. Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. J Clin Endocrinol Metab. 1999 Aug;84(8):2933-41. doi: 10.1210/jcem.84.8.5869. Citation on PubMed

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