== Function ==
ADGRV1 (also known as GPR98 or VLGR1) encodes one of the largest G protein-coupled receptors in humans, with over 6000 amino acids. This receptor is a member of the adhesion GPCR family, characterized by a large extracellular N-terminal region containing multiple calx-beta domains and a GPS (GPCR proteolysis site) domain. ADGRV1 is expressed predominantly in the inner ear, retina, and central nervous system, where it plays critical roles in sensory perception and neuronal development. [1]
In the inner ear, ADGRV1 is essential for stereocilia organization and hair cell function, working alongside other proteins like USH2A (whirlin) in the ankle-link complex that connects stereocilia tips. In the brain, ADGRV1 is expressed in the cerebellum, hippocampus, and cerebral cortex, where it may function in synaptic organization and neuronal migration during development. [2]
== Disease Associations == [3]
Mutations in ADGRV1 cause Usher syndrome type 2C (USH2C), a recessive disorder characterized by: [4]
ADGRV1 mutations have also been associated with: [5]
== Expression == [6]
ADGRV1 shows high expression in: [7]
== Key Publications == [8]
== References == [9]
ADGRV1 (Adhesion G Protein-Coupled Receptor V1), also known as GPR98 or VLGR1, encodes the largest G protein-coupled receptor involved in synapse organization and auditory hair bundle development. ADGRV1 plays roles in synaptic transmission, calcium signaling, and neuronal excitability. Mutations in ADGRV1 cause Usher syndrome type IIA, characterized by hearing loss and retinitis pigmentosa. The gene has also been implicated in epilepsy and autism spectrum disorder.
Weston et al. ADGRV1 (VLGR1) mutations in Usher syndrome type II (2004). 2004. ↩︎
Bayne et al. Identification of ADGRV1 mutations causing Usher syndrome type 2C (2005). 2005. ↩︎
McGee et al. The very large G-protein coupled receptor VLGR1: cell surface expression and localization in inner ear (2006). 2006. ↩︎
Michalski et al. ADGRV1 and USH2A co-localize in retinal photoreceptor cells (2017). 2017. ↩︎
Ebermann et al. GPR98 mutations cause Usher syndrome type 2 (2007). 2007. ↩︎
Weston et al. ADGRV1 (VLGR1) mutations in Usher syndrome type II (2004). 2004. ↩︎
Nikkola et al. Role of ADGRV1 in neuroligin binding and synaptogenesis (2013). 2013. ↩︎
Beurg et al. Mechanoelectrical transduction by stereociliary bundles (2017). 2017. ↩︎
Petit et al. Usher syndrome: Genetics and molecular basis (2021). 2021. ↩︎