Protein Domain : Adhesion G-protein coupled receptor V1 IPR026919

Type  Family
Description  Adhesion G-protein coupled receptor V1 (ADGRV1), also known as G protein-coupled receptor 98, is a receptor that has an essential role in the development of hearing and vision [ , , , ]. It couples to G-alpha(i)-proteins, GNAI1/2/3, G-alpha(q)-proteins, GNAQ, as well as G-alpha(s)-proteins, GNAS, inhibiting adenylate cyclase (AC) activity and cAMP production [, ]. Defects in GPR98 are the cause of Usher syndrome type 2C (USH2C). USH is a genetically heterogeneous condition characterised by the association of retinitis pigmentosa with sensorineural deafness [, ]. Defects in GPR98 may also be a cause of familial febrile convulsions type 4 (FEB4); also known as familial febrile seizures 4 [].
Short Name  ADGRV1

0 Child Features

0 Gene Families

0 Genes

3 Ontology Annotations

0 Parent Features

0 Publications

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