Summary of GPR126
This gene encodes a G protein-coupled receptor, which can affect a person's stature (R).
The Function of GPR126
G-protein coupled receptor which is activated by type IV collagen, a major constituent of the basement membrane. Essential for normal differentiation of promyelinating Schwann cells and for normal myelination of axons.
Recommended name:Adhesion G-protein coupled receptor G6
Alternative name(s):Developmentally regulated G-protein-coupled receptor
G-protein coupled receptor 126
Vascular inducible G protein-coupled receptor
From NCBI Gene: Lethal congenital contracture syndrome 9From UniProt: Lethal congenital contracture syndrome 9 (LCCS9): A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. [MIM:616503]
From NCBI 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] From UniProt: G-protein coupled receptor which is activated by type IV collagen, a major constituent of the basement membrane. Essential for normal differentiation of promyelinating Schwann cells and for normal myelination of axons.
Conditions with Decreased Gene Activity
|Condition||Change (log2fold)||Comparison||Species||Experimental variables||Experiment name|
The following transcription factors affect gene expression:
Expressed in placenta and to a lower extent in pancreas and liver. Detected in aortic endothelial cells but not in skin microvascular endothelial cells.
Up-regulated by bacterial lipopolysaccharides (LPS) and thrombin, but not by other inflammatory stimuli in primary umbilical veins.
- Camp-Mediated Signaling
- Cell Surface Receptor Signaling Pathway
- G-Protein Coupled Receptor Signaling Pathway
- Schwann Cell Differentiation