ADGRG6
Chr 6ARadhesion G protein-coupled receptor G6
Also known as: APG1, DREG, GPR126, LCCS9, PR126, PS1TP2, VIGR
The protein is an adhesion G-protein coupled receptor that binds steroid hormones like progesterone and signals through G proteins to regulate adenylate cyclase, playing roles in peripheral nervous system myelination, blood-brain barrier formation, and bone development. Mutations cause autosomal recessive polymicrogyria, megalencephaly, and hydrocephalus (PMGYSH), affecting brain development and structure. This gene is highly constrained against loss-of-function variants (LOEUF 0.468), indicating that complete loss of protein function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ADGRG6 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools