TGM1

Chr 14q12

transglutaminase 1

Aliases:: TGASE, TGK, LI, LI1
MANE:: ENST00000206765.11

OMIM: 190195 ↗NCBI: 7051 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

TGM1 · P22735

v62025-08-01

Predicted Aligned Error matrix for TGM1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.1/ 100

Confident

817 residues

Confidence breakdown

Very high(≥ 90)72%
Confident(70–90)11%
Low(50–70)2%
Very low(< 50)15%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Autosomal recessive congenital ichthyosis
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Familial cicatricial alopecia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

lamellar ichthyosis
0.72
autosomal recessive congenital ichthyosis
0.71
congenital reticular ichthyosiform erythroderma
0.50
Abnormality of the skin
0.48
ichthyosis
0.46
congenital non-bullous ichthyosiform erythroderma
0.38
acral self-healing collodion baby
0.38
bathing suit ichthyosis
0.38
self-healing collodion baby
0.38
inherited ichthyosis
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein-glutamine gamma-glutamyltransferase K

Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins (PubMed:7629111, PubMed:8824274, PubMed:26220141, PubMed:20663883). Responsible for cross-linking epidermal proteins during formation of the stratum corneum (PubMed:26220141). Involved in cell proliferation (PubMed:26220141)