MC1-R Recombinant Rabbit Monoclonal Antibody [JE39-49]

功能

Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. 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.

背景文献

1. Jimenez-Cervantes C et al. The Pro162 variant is a loss-of-function mutation of the human melanocortin 1 receptor gene. J. Invest. Dermatol. 117:156-158 (2001)

2. Nakayama K et al. Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians. Hum. Genet. 119:322-330 (2006)

亚细胞定位

Cell membrane.

UNIPROT

SwissProt: Q01726 Human

SwissProt: B6ZGR5 Rat

别名