Domain:The highly acidic C-terminal region may bind cations such as calcium. ,Function:Receptor for MSH (alpha , beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. ,Function:Tubulin is the major constituent of microtubules. It binds two moles of GTP , one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain. ,polymorphism:Genetic variations in MC1R are associated with variation in skin/hair/eye pigmentation type 2 (SHEP2) [MIM:266300]. Hair , eye and skin pigmentation are among the most visible examples of human phenotypic variation , with a broad normal range that is subject to substantial geographic stratification. In the case of skin , individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast , the majority of variation in human eye and hair color is found among individuals of European ancestry , with most other human populations fixed for brown eyes and black hair. ,polymorphism:Variations in MC1R are linked to the degree of skin pigmentation (Types I-IV) . Type I skin the most lightly pigmented and type IV the most dark pigmented. Partial loss-of-function mutations are associated with fair skin , poor tanning and increased skin cancer risk. ,similarity:Belongs to the G-protein coupled receptor 1 family. ,similarity:Belongs to the tubulin family. ,subunit:Dimer of alpha and beta chains. ,tissue specificity:Melanocytes and corticoadrenal tissue. ,
展开内容