TMPPE
Chr 3transmembrane protein with metallophosphoesterase domain
The TMPPE protein is predicted to function as a hydrolase with metal ion binding activity and is located in cellular membranes. This gene is extremely intolerant to loss-of-function variants (pLI = 0.0009), suggesting mutations would likely cause severe developmental disorders, though specific associated diseases have not yet been established in the literature. The high constraint score indicates that pathogenic variants in this gene would be expected to cause significant clinical phenotypes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TMPPE · 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 →No open access results found
External Resources
Links to major genomics databases and tools