GPR75 - Probable G-protein coupled receptor 75

Probable G-protein coupled receptor 75 is a protein that in humans is encoded by the GPR75 gene. GPR75 is a member of the G protein-coupled receptor family. GPRs are cell surface receptors that activate guanine-nucleotide binding proteins upon the binding of a ligand. GPR75 is currently classified as an orphan GPCR and several studies are underway to identify its ligand. In one study, the chemokine CCL5 (RANTES) has been shown to stimulate calcium mobilization and inositol triphosphate formation in GPR75-transfected cells. GPR75 is rare mutation gene, leading to only one working copy of it. Being in this rare group of people is associated with a lower body weight and 54 percent lower odds of obesity. These results are consistent across multiple ancestries, environmental exposures and genetic backgrounds, and they strongly suggest GPR75 is one of many genes involved in weight gain.

Gene location in human

Whole exome sequencing, which can help us find mutations in certain genes and therefore reveal their effects. Instead of sequencing each and every gene in the human genome, exome sequencing focuses only on exons, which make up about one percent of all DNA. Exons are the pieces that provide instructions for proteins, which means when you sequence this entire subset you can identify mutations in protein-coding regions of any gene. Such variations are generally quite rare, but when they are found, they "self-identify" causative genes.

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