Aliases for ADGRG6 Gene
External Ids for ADGRG6 Gene
Previous HGNC Symbols for ADGRG6 Gene
This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]
GeneCards Summary for ADGRG6 Gene
ADGRG6 (Adhesion G Protein-Coupled Receptor G6) is a Protein Coding gene. Diseases associated with ADGRG6 include Lethal Congenital Contracture Syndrome 9 and Arthrogryposis, Distal, Type 1A. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is ADGRG4.
UniProtKB/Swiss-Prot Summary for ADGRG6 Gene
G-protein coupled receptor which is activated by type IV collagen, a major constituent of the basement membrane (By similarity). Couples to G(i)-proteins as well as G(s)-proteins (PubMed:24227709). Essential for normal differentiation of promyelinating Schwann cells and for normal myelination of axons (PubMed:24227709). Regulates neural, cardiac and ear development via G-protein- and/or N-terminus-dependent signaling (By similarity). May act as a receptor for PRNP which may promote myelin homeostasis (By similarity).