MC1 Receptor (MC1R) Antibody – Rabbit Polyclonal

This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]

MC1R: Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Genetic variations in MC1R are a cause of susceptibility to cutaneous malignant melanoma type 5 (CMM5). Malignant melanoma is a malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites. Belongs to the G-protein coupled receptor 1 family.

Protein type: GPCR, family 1; Membrane protein, integral; Membrane protein, multi-pass; Receptor, GPCR

Chromosomal Location of Human Ortholog: 16q24.3

Cellular Component: integral to plasma membrane; plasma membrane

Molecular Function: melanocortin receptor activity; melanocyte stimulating hormone receptor activity; peptide receptor activity, G-protein coupled; protein binding; ubiquitin protein ligase binding

Biological Process: G-protein signaling, coupled to cyclic nucleotide second messenger; multicellular organismal development; negative regulation of tumor necrosis factor production; pigmentation; positive regulation of cAMP biosynthetic process; positive regulation of protein kinase B signaling cascade; positive regulation of transcription from RNA polymerase II promoter; UV protection

Disease: Albinism, Oculocutaneous, Type Ii; Increased Analgesia From Kappa-opioid Receptor Agonist, Female-specific; Melanoma, Cutaneous Malignant, Susceptibility To, 5; Skin/hair/eye Pigmentation, Variation In, 2