TGM1 (P22735) variants and mutations

TGM1 (also known as P22735) is a human protein-coding gene encoding a protein-glutamine gamma-glutamyltransferase K protein. It crosslinks structural proteins and lipids during formation of the cornified envelope, creating the mechanically resilient outer skin barrier. Biallelic loss-of-function variants are a major cause of autosomal recessive congenital ichthyosis, particularly lamellar ichthyosis. This analysis covers 1,372 TGM1 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes lamellar ichthyosis, autosomal recessive congenital ichthyosis, and congenital reticular ichthyosiform erythroderma. Example TGM1 variants include M1?, M1V, and D3G.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable TGM1 variants

Examples include M1?, M1V, D3G, P5L, P5S, R6C, R6H, R6L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.