AVP
Homo sapiens
Gene Name: Arginine vasopressin
Aliases: ADH, ARVP-NPII, AVRP, VP,AVP
Chromosome No: 20
Chromosome Band: 20p13
Genetic Category: Functional-Genetic association-
Aliases: ADH, ARVP-NPII, AVRP, VP,AVP
Chromosome No: 20
Chromosome Band: 20p13
Genetic Category: Functional-Genetic association-
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 6
Evidence score: null
ASD Reports: 4
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 6
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Brattleboro rats, which have a spontaneous mutation disrupting the AVP gene, were shown to display a natural deficit in social discrimination that could be reversed by treatment with clozapine or a neurotensin analog (Feifel et al., 2009). One of the receptors for arginine vasopressin is the protein encoded by the ASD-associated gene AVPR1.
Molecular Function
This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products, including the neuropeptide hormone arginine vasopressin. Arginine vasopressin plays a role in many biological processes, including cognition, tolerance, adaptation and complex sexual and maternal behaviour.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The brattleboro rat displays a natural deficit in social discrimination that is restored by clozapine and a neurotensin analog.
Positive Association
Variants in Adjacent Oxytocin/Vasopressin Gene Region and Associations with ASD Diagnosis and Other Autism Related Endophenotypes.
ASD
Support
Atypical Social Development in Vasopressin-Deficient Brattleboro Rats.
