GPHN
Chr 14ARgephyrin
Also known as: GEPH, GPH, GPHRYN, HKPX1, MOCODC
The protein anchors inhibitory glycine and GABA-A receptors to postsynaptic microtubules at inhibitory synapses and is required for molybdenum cofactor biosynthesis in non-neuronal tissues. Autosomal recessive loss-of-function mutations cause molybdenum cofactor deficiency type C and may be associated with hyperekplexia. The gene is highly intolerant to loss-of-function variants (pLI 0.999981), consistent with severe disease when both alleles are affected.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GPHN · 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
External Resources
Links to major genomics databases and tools