TMEM204
Chr 16transmembrane protein 204
Also known as: C16orf30, CLP24
The TMEM204 protein regulates paracellular permeability and participates in cell-cell interactions through adherens junctions. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, which typically presents in infancy with seizures and developmental delays. This gene is highly constrained against loss-of-function variants, indicating its critical importance for normal cellular function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TMEM204 · 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