MC3R Chromosome 20

Melanocortin 3 receptor
4 variants 4 Health Risk

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What This Gene Does
This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Melanocortin receptors
Locus Type
gene with protein product
Location
20q13.2
Ensembl
ENSG00000124089
Associated Conditions (3)
MC3R-related disorder
OBESITY (BMIQ9)
SUSCEPTIBILITY TO
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS148382606 Health Risk Conflicting classifications of pathogenicity MC3R-related disorder, MC3R-related disorder
RS2146061616 Health Risk Conflicting classifications of pathogenicity MC3R-related disorder, OBESITY (BMIQ9), SUSCEPTIBILITY TO
RS121913556 Health Risk risk factor OBESITY (BMIQ9), SUSCEPTIBILITY TO, OBESITY (BMIQ9)
RS74315393 Health Risk risk factor OBESITY (BMIQ9), SUSCEPTIBILITY TO, OBESITY (BMIQ9)
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