ADGRG7
ADGRG7: An Integral Adhesion G Protein-Coupled Receptor
Description:
ADGRG7, also known as GPR127, is a member of the adhesion G protein-coupled receptor (GPCR) family. These receptors are characterized by their large extracellular domain, which contains multiple cadherin-like repeats, and their ability to bind to various cell-surface molecules.
Associated Diseases:
Mutations in the ADGRG7 gene have been linked to several diseases, including:
- Autosomal dominant nonsyndromic deafness (DFNA41): A genetic form of hearing loss caused by mutations that disrupt the function of ADGRG7.
- Autosomal dominant non-syndromic macular dystrophy (NDMD): A condition that affects the central area of vision, known as the macula.
- Retinitis pigmentosa (RP): A group of inherited eye diseases that cause progressive degeneration of the retina.
- Glaucomatous optic neuropathy: A condition that damages the optic nerve and can lead to blindness.
Did you Know ?
Approximately 5% of cases of autosomal dominant DFNA41 are caused by mutations in the ADGRG7 gene.
