Gene Symbol | ADGRV1 |
Entrez Gene ID | 84059 |
Full Name | adhesion G protein-coupled receptor V1 |
Synonyms | FEB4,GPR98,MASS1,USH2B,USH2C,VLGR1,VLGR1b |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | ?Febrile seizures, familial, 4, 604352 (3); Usher syndrome, type 2C, 605472 (3); Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3) |