GLYR1
Chr 16glyoxylate reductase 1 homolog
Also known as: BM045, HIBDL, N-PAC, NP60, NPAC, hNDF
GLYR1 encodes a chromatin remodeling factor that destabilizes nucleosomes during transcriptional activation and regulates gene expression through histone modifications and interactions with histone-modifying enzymes. Mutations cause autosomal dominant neurodevelopmental disorder with developmental delay, intellectual disability, and variable features including seizures and behavioral abnormalities. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.195), reflecting its essential role in transcriptional regulation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GLYR1 · 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