MC3R Chromosome 20
Melanocortin 3 receptor
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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
RS148382606
Conflicting classifications of pathogenicity
MC3R-related disorder, MC3R-related disorder
Health Risk
RS2146061616
Conflicting classifications of pathogenicity
MC3R-related disorder, OBESITY (BMIQ9), SUSCEPTIBILITY TO
Health Risk
RS121913556
risk factor
OBESITY (BMIQ9), SUSCEPTIBILITY TO, OBESITY (BMIQ9)
Health Risk
RS74315393
risk factor
OBESITY (BMIQ9), SUSCEPTIBILITY TO, OBESITY (BMIQ9)
Health Risk
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) |