The melanocortin 1 receptor (MC1R), also known as melanocyte-stimulating hormone receptor (MSHR), melanin-activating peptide receptor, or melanotropin receptor, is a G protein–coupled receptor that binds to a class of pituitary peptide hormones known as the melanocortins, which include adrenocorticotropic hormone (ACTH) and the different ...

Certain genetic changes in the MC1R gene modify the appearance of people with oculocutaneous albinism type 2. This form of albinism, which is caused by mutations in the OCA2 gene, is characterized by fair hair, light-colored eyes, creamy white skin, and vision problems.

The melanocortin 1 receptor (MC1R) gene encodes the receptor of melanocortin-stimulating hormone (also referred to as melanocyte-stimulating hormone or MSH), which is found on the surface of melanocytes.

The melanocortin 1 receptor (MC1R) is a melanocytic G s protein coupled receptor that regulates skin pigmentation, UV responses, and melanoma risk. It is a highly polymorphic gene, and loss of function correlates with a fair, UV-sensitive, and melanoma-prone phenotype due to defective epidermal melanization and sub-optimal DNA repair.

2024年12月25日 · MC1R (Melanocortin 1 Receptor) is a Protein Coding gene. Diseases associated with MC1R include Skin/Hair/Eye Pigmentation, Variation In, 2 and Melanoma, Cutaneous Malignant 5. Among its related pathways are Class A/1 (Rhodopsin-like receptors) and GPCR downstream signalling.

In this review, we focus on the melanocortin 1 receptor (MC1R), a G protein-coupled receptor primarily known for regulating skin pigmentation and exhibiting anti-inflammatory effects. First, we provide an overview of the structure, signaling pathways, and related diseases of MC1R.

MC1R polymorphisms reduce the ability of the melanocortin 1 receptor to stimulate eumelanin production, causing melanocytes to make mostly pheomelanin. Although MC1R is a key gene in normal human pigmentation, researchers believe that the effects of other genes also contribute to a person's hair and skin coloring.

The melanocortin 1 receptor, a seven pass transmembrane G protein coupled receptor, is a key control point in melanogenesis. Loss-of-function mutations at the MC1R are associated with a switch from eumelanin to phaeomelanin production, resulting in a red or yellow coat colour. Activating mutations, …

2025年2月8日 · Melanocortin 1 receptor (MC1R), which is a well‐known genetic determinant of skin and hair color, was found to be also expressed in the mouse heart and downregulated during pathological cardiac remodeling. Global and cardiomyocyte‐specific deficiency of MC1R attenuated cardiac hypertrophy after both pressure overload and exercise training.

The melanocortin‐1 receptor (MC1R) is a G protein‐coupled receptor that plays a pivotal role in human skin pigmentation, melanin synthesis, redox homeostasis and inflammation. Loss‐of‐function MC1R variants suppress G protein‐coupled receptor ...