| Entrez Gene ID | 7051 |
|---|---|
| Official Gene Symbol | TGM1 (GeneCards) |
| Full name | transglutaminase 1 |
| Location | 14q12 |
| Other ids | Vega : OTTHUMG00000029329 MIM : 190195 HGNC : HGNC:11777 Ensembl : ENSG00000092295 |
| Other names | LI, KTG, LI1, TGK, ICR2, ARCI1, TGASE |
| Summary | 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] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 937 | 7051 | TGM1 | 14 | 24728371 | 24728371 | Human Skin Fibroblasts | HiSeq 2500 |
| 938 | 7051 | TGM1 | 14 | 24728372 | 24728372 | Human Skin Fibroblasts | HiSeq 2500 |