ADGRG6 gene

adhesion G protein-coupled receptor G6

The information on this page was automatically extracted from online scientific databases.

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 (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.

From NCBI Gene:

  • Lethal congenital contracture syndrome 9

From 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]

Cytogenetic Location: 6q24.2, which is the long (q) arm of chromosome 6 at position 24.2

Molecular Location: base pairs 142,301,919 to 142,446,266 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q24.2, which is the long (q) arm of chromosome 6 at position 24.2
  • APG1
  • DREG
  • GPR126
  • LCCS9
  • PR126
  • PS1TP2
  • VIGR