AVP gene

Article about the AVP gene

The AVP gene encodes the arginine vasopressin (AVP) hormone, which is a crucial component in the regulation of water balance and blood pressure in the human body. This gene is located on chromosome 20 and plays a significant role in the endocrine system.

Structure

The AVP gene is composed of three exons and two introns. It is located on the short arm of chromosome 20 at position 13.3. The gene encodes a precursor protein that is processed to produce the active hormone, arginine vasopressin, along with other peptides such as neurophysin II and copeptin.

Diagram of the AVP gene structure

Function

The primary function of the AVP gene is to produce arginine vasopressin, a peptide hormone that is essential for maintaining homeostasis in the body. AVP acts on the kidneys to promote water reabsorption, thereby concentrating the urine and conserving water. It also causes vasoconstriction, which increases blood pressure.

Regulation

The expression of the AVP gene is regulated by various physiological stimuli, including changes in plasma osmolality and blood volume. Osmoreceptors in the hypothalamus detect changes in blood osmolality and stimulate the release of AVP from the posterior pituitary gland.

Clinical significance

Mutations in the AVP gene can lead to disorders such as diabetes insipidus, which is characterized by excessive thirst and excretion of large amounts of dilute urine. The measurement of copeptin, a stable peptide derived from the same precursor as AVP, is often used as a surrogate marker for AVP levels in clinical settings.

Copeptin, a peptide derived from the AVP precursor

Related pages

• Arginine vasopressin
• Endocrine system
• Diabetes insipidus
• Chromosome 20

Gallery

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  Diagram of the AVP gene structure

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  Copeptin, a peptide derived from the AVP precursor