Arginine vasopressin
The AVP gene encodes the antidiuretic hormone, arginine vasopressin, which is secreted by the posterior pituitary. Mutaions cause autosomal dominant central diabetes insipidus.
Genetests:
Related Diseases:
References:
1. |
Bahnsen U et al. (1992) A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.
|
2. |
Ito M et al. (1991) A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.
|
3. |
Ito M et al. (1993) Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus.
|
4. |
Orphanet article
Orphanet ID 118943
|
5. |
NCBI article
NCBI 551
|
6. |
OMIM.ORG article
Omim 192340
|
7. |
Wikipedia article
Wikipedia EN (Vasopressin)
|
Update: Aug. 14, 2020