The ADGRG7 gene encodes Adhesion G Protein-Coupled Receptor G7, an orphan transmembrane receptor belonging to the adhesion GPCR family. Owing to its G-protein coupled receptor activity, the protein is involved in the G-protein coupled receptor signaling pathway and the cell surface receptor signaling pathway.
While the gene is yet to be fully characterized, animal studies have helped shed light on its physiological role. Deletion of the mouse orthologue gene results in reduced body weight and induced intestinal contraction frequency.
The ADGRG7 gene is located on the long arm of chromosome 3 at position 3q12.2. It spans a length of 85.8 kb of DNA and its coding sequence is spread across 16 exons. The gene encodes an 88.9 kDa protein product consisting of 797 amino acids. ADGRG7 is found to be overexpressed in the liver.
Monies et al. (2017) studied the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, an 18-year-old male from a consanguineous family, presented with exercise-induced muscle pain, rhabdomyolysis and a post-exercise CK level >15000. He had no tenderness, muscle atrophy or hypertrophy and was otherwise asymptomatic. Whole exome sequencing helped identify a homozygous mutation (c.170C>A, p.T57N) in exon 2 of the patient’s ADGRG7 gene. This gene mutation was considered a candidate for pathogenicity due to several reasons: it was a novel variant located within the autozygome and was predicted to be deleterious; and the ADGRG7 gene is a G protein-coupled receptor seen to be expressed in the skeletal muscle. The authors noted that further studies are required to confirm this association.
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