TGM5
Chr 15ARtransglutaminase 5
Also known as: PSS2, TG(X), TGASE5, TGASEX, TGMX, TGX
The encoded protein is a transglutaminase that catalyzes calcium-dependent cross-linking of proteins and contributes to cornified cell envelope formation in keratinocytes. Mutations cause peeling skin syndrome 2, an autosomal recessive disorder affecting skin integrity. The gene shows tolerance to loss-of-function variants (LOEUF 1.436), consistent with the recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TGM5 · 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