KDM5C
Chr XXLRlysine demethylase 5C
Also known as: DXS1272E, JARID1C, MRX13, MRXJ, MRXS16, MRXSCJ, MRXSJ, SMCX
This protein is a histone demethylase that regulates gene transcription and chromatin remodeling through its DNA-binding domains. Loss-of-function mutations cause X-linked intellectual developmental disorder, Claes-Jensen type, inherited in an X-linked recessive pattern. The high constraint scores (pLI 0.999, LOEUF 0.166) indicate the gene is highly intolerant to loss-of-function variants, consistent with pathogenic mutations disrupting normal chromatin regulation.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Extremely missense-constrained (top ~0.01%)
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
KDM5C · 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