TGM1 Chromosome 14
Transglutaminase 1
Upload your DNA to see your personal genotypes for variants in TGM1.
What This Gene Does
The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Transglutaminases
Locus Type
gene with protein product
Location
14q12
Ensembl
ENSG00000092295
Associated Conditions (18)
Autosomal recessive congenital ichthyosis 1
TGM1-related disorder
Inborn genetic diseases
Cervical cancer
Colon adenocarcinoma
Lamellar ichthyosis
Congenital ichthyosiform erythroderma
Ovarian serous cystadenocarcinoma
Ichthyosis
Abnormality of the skin
Autosomal recessive congenital ichthyosis
Cholangiocarcinoma
Lung cancer
Familial cancer of breast
Thyroid cancer
nonmedullary
1
Treacher Collins syndrome 1
Key Variants
RS1057517837
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
Health Risk
RS1199404507
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
Health Risk
RS121918729
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
Health Risk
RS138574046
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
Health Risk
RS139387079
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
Health Risk
RS139811103
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 1, TGM1-related disorder, Autosomal recessive congenital ichthyosis 1
Health Risk
RS140542428
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 1, Inborn genetic diseases, TGM1-related disorder
Health Risk
RS141972252
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
Health Risk
RS142404759
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 1, TGM1-related disorder, Autosomal recessive congenital ichthyosis 1
Health Risk
RS142455594
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 1, Inborn genetic diseases, Autosomal recessive congenital ichthyosis 1
Health Risk
RS1444157818
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
Health Risk
RS145197904
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 1, Inborn genetic diseases, Autosomal recessive congenital ichthyosis 1
Health Risk
All Variants (304)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2139025081 | Health Risk | Pathogenic | — |
| RS2139025384 | Health Risk | Pathogenic | — |
| RS2139025952 | Health Risk | Pathogenic | — |
| RS2139026104 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2139026120 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2139026230 | Health Risk | Pathogenic | — |
| RS2139027584 | Health Risk | Pathogenic | — |
| RS2139027688 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2139028390 | Health Risk | Pathogenic | — |
| RS2502491794 | Health Risk | Pathogenic | — |
| RS2502491950 | Health Risk | Pathogenic | — |
| RS2502493201 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502493803 | Health Risk | Pathogenic | — |
| RS2502494014 | Health Risk | Pathogenic | — |
| RS2502494296 | Health Risk | Pathogenic | — |
| RS2502496349 | Health Risk | Pathogenic | — |
| RS2502500054 | Health Risk | Pathogenic | — |
| RS2502501518 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502501563 | Health Risk | Pathogenic | — |
| RS2502501603 | Health Risk | Pathogenic | — |
| RS2502503984 | Health Risk | Pathogenic | — |
| RS2502504115 | Health Risk | Pathogenic | — |
| RS2502504291 | Health Risk | Pathogenic | — |
| RS2502505581 | Health Risk | Pathogenic | — |
| RS2502505636 | Health Risk | Pathogenic | — |
| RS2502505831 | Health Risk | Pathogenic | — |
| RS2502505952 | Health Risk | Pathogenic | — |
| RS2502506005 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS2502506220 | Health Risk | Pathogenic | — |
| RS2502507903 | Health Risk | Pathogenic | — |
| RS2502508287 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, TGM1-related disorder, Autosomal recessive congenital ichthyosis 1 |
| RS2502509104 | Health Risk | Pathogenic | — |
| RS2502509234 | Health Risk | Pathogenic | — |
| RS367699137 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 1 |
| RS397514523 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS398122900 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS398122901 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS398122902 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS398122903 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS398122904 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS531650682 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS533959758 | Health Risk | Pathogenic | — |
| RS563305936 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS587779765 | Health Risk | Pathogenic | Lamellar ichthyosis, Lamellar ichthyosis |
| RS747781875 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS756732717 | Health Risk | Pathogenic | — |
| RS760429286 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis, TGM1-related disorder |
| RS765914927 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS771820315 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 1 |
| RS773303931 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |