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TGM1 - transglutaminase 1
- Synonym(s) : K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase, LI, LI1, TGASE, TGK
- Previous symbols and names : ICR2, Transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
- Type : gene with protein product
- Chromosomal location : 14q12
- OMIM: 190195
- HGNC: 11777
- UniProtKB: P22735
- Genatlas: TGM1
- Ensembl: ENSG00000092295
- IUPHAR-DB: -
- Reactome: P22735
- LOVD: TGM1
Diseases list
- Disease-causing germline mutation(s) in Acral self-healing collodion baby
ORPHA:281127 
- Disease-causing germline mutation(s) in Bathing suit ichthyosis
ORPHA:100976 - Disease-causing germline mutation(s) in Congenital non-bullous ichthyosiform erythroderma
ORPHA:79394 - Disease-causing germline mutation(s) in Lamellar ichthyosis
ORPHA:313 - Disease-causing germline mutation(s) in Self-improving collodion baby
ORPHA:281122
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
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