| Gene Symbol | ADGRV1 |
| Aliases | GPR98 |
| Protein Type | Gene |
| Function | 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. |
| Primary Expression | the cerebellum, hippocampus, and cerebral cortex, where it may function in synaptic organizatio |
| Molecular Weight | 690 kDa |
| Amino Acids | 6000 aa |
| Ensembl ID | ENSG00000164199 |
| GeneCards | ADGRV1 |
| Human Protein Atlas | ADGRV1 |
| LamG (laminin G-like) domains | mediate protein-protein interactions |
| GPS (GPCR proteolysis site) domain | autoproteolysis occurs here |
| Usher Syndrome Type 2C | Loss-of-function mutations disrupt stereocilia organization, causing deafness and retinal degeneration |
| Hearing loss | Essential for maintaining hair bundle structure |
| Retinitis pigmentosa | Progressive photoreceptor cell death |
| Associated Diseases | epilepsy and autism spectrum disorder |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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