Neurophysin II: Difference between revisions

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== Clinical significance ==
== Clinical significance ==


Point mutations in neurophysin II underline most cases of hereditary [[hypothalamic diabetes insipidus]], a disorder resulting from insufficient ADH release into systemic circulation.
Point mutations in neurophysin II underline most cases of hereditary hypothalamic[[ diabetes insipidus]], a disorder resulting from insufficient ADH release into systemic circulation.


==References==
==References==

Revision as of 14:37, 11 March 2010

arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal)
Identifiers
SymbolAVP
Alt. symbolsARVP
NCBI gene551
HGNC894
OMIM192340
RefSeqNM_000490
UniProtP01185
Other data
LocusChr. 20 p13
Search for
StructuresSwiss-model
DomainsInterPro

Neurophysin II is a carrier protein which binds vasopressin. It is generated from the same precursor as vasopressin.

It can be associated with neurohypophyseal diabetes insipidus.[1]

Neurophysin II is also known as a stimulator of Prolactin secretion.

Clinical significance

Point mutations in neurophysin II underline most cases of hereditary hypothalamicdiabetes insipidus, a disorder resulting from insufficient ADH release into systemic circulation.

References

  1. ^ Christensen JH, Siggaard C, Corydon TJ; et al. (2004). "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. 12 (1): 44–51. doi:10.1038/sj.ejhg.5201086. PMID 14673472. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)

External links