MC4R
Homo sapiens
Gene Name: Melanocortin 4 receptor
Aliases:
Chromosome No: 18
Chromosome Band: 18q21.32
Genetic Category: Functional
Aliases:
Chromosome No: 18
Chromosome Band: 18q21.32
Genetic Category: Functional
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 0
Associated CNVs: 10
Evidence score: null
ASD Reports: 4
Recent Reports: 0
Annotated variants: 0
Associated CNVs: 10
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Both constitutive and induced genetic deletion of the gene encoding the melanocortin 4 receptor (MC4R), as well as pharmacologic inhibition of MC4R signaling, were found to normalize compulsive grooming and striatal electrophysiologic impairments in DLGAP3-nullmice, a model of human obsessive-compulsivedisorder (Xu et al., 2013).
Molecular Function
The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. Defects in this gene are a cause of autosomal dominant obesity [MIM:601665].
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Double deletion of melanocortin 4 receptors and SAPAP3 corrects compulsive behavior and obesity in mice.
Support
Molecular and behavioral interactions between central melanocortins and cocaine.
Support
Melanocortin Receptor Agonists Facilitate Oxytocin-Dependent Partner Preference Formation in the Prairie Vole.
Support
Neonatal melanocortin receptor agonist treatment reduces play fighting and promotes adult attachment in prairie voles in a sex-dependent manner.
