KCTD3
Chr 1potassium channel tetramerization domain containing 3
Also known as: NY-REN-45
KCTD3 encodes an accessory subunit that regulates hyperpolarization-activated cyclic nucleotide-gated channel 3 (HCN3) by increasing its cell surface expression and current density. Mutations cause neuronal migration disorders and developmental delays with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants, indicating that complete loss of KCTD3 function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KCTD3 · 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