MCHR1
MCHR1: The Melanocortin-1 Receptor
Description
The melanocortin-1 receptor (MCHR1) is a G protein-coupled receptor (GPCR) that belongs to the melanocortin receptor family. It is primarily expressed in the skin, brain, and adipose tissue. MCHR1 is involved in regulating pigmentation, appetite, energy metabolism, and adrenal steroidogenesis.
Associated Diseases
Mutations in MCHR1 have been linked to several diseases, including:
- Red hair and fair skin (RHC): A condition characterized by reddish hair, fair skin, and an increased risk of skin cancer.
- Bardet-Biedl syndrome (BBS): A rare genetic disorder characterized by obesity, short stature, intellectual disability, and retinal degeneration.
- Prader-Willi syndrome (PWS): A genetic disorder characterized by intellectual disability, excessive hunger, and obesity.
- Addison's disease: A condition in which the adrenal glands do not produce enough hormones, such as cortisol.
Did you Know ?
Approximately 1-2% of the global population has red hair and fair skin, which is largely attributed to mutations in the MCHR1 gene.
