CHRNG
Chr 2ARcholinergic receptor nicotinic gamma subunit
Also known as: ACHRG
The gamma subunit forms part of the fetal muscle-type acetylcholine receptor pentamer at the neuromuscular junction, functioning in neuromuscular organogenesis and ligand binding. Mutations cause Escobar syndrome and lethal multiple pterygium syndrome through autosomal recessive inheritance. The pathogenic mechanism involves gain-of-function effects that disrupt normal receptor localization in cell membranes.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
CHRNG · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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