TGM1 gene homepage

General information
Gene symbol TGM1
Gene name transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
Chromosome 14
Chromosomal band q11.2
Imprinted Unknown
Genomic reference NG_007150.1
Transcript reference NM_000359.2
Exon/intron information NM_000359.2 exon/intron table
Associated with diseases ARCI-1, ARCI-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Michel van Geel
Total number of public variants reported 184
Unique public DNA variants reported 86
Individuals with public variants 156
Hidden variants 62
Date created April 05, 2011
Date last updated May 13, 2019
Version TGM1:190513

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000359.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
HGNC 11777
Entrez Gene 7051
PubMed articles TGM1
OMIM - Gene 190195
OMIM - Diseases ARCI-1 (ichthyosis, congenital, autosomal recessive, type 1 (ARCI-1))
ARCI-2 (ichthyosis, congenital, autosomal recessive, type 2 (ARCI-2))
GeneCards TGM1
GeneTests TGM1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000098 14 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) NM_000359.2 NP_000350.1 184

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.