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AVP gene

arginine vasopressin
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Normal Function

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.

Health Conditions Related to Genetic Changes

Neurohypophyseal diabetes insipidus

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.

More About This Health Condition

Other Names for This Gene

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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Christensen JH, Rittig S. Familial neurohypophyseal diabetes insipidus--an update. Semin Nephrol. 2006 May;26(3):209-23. Review. 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. 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. 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. 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. Citation on PubMed
  • Repaske DR, Summar ML, Krishnamani MR, Gültekin 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. Citation on PubMed
  • Rittig S, Robertson GL, Siggaard C, Kovács 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. Citation on PubMed
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