loading...| Preferred Name |
transglutaminase 1 |
| Synonyms |
TGM1 protein, human |
| ID |
http://purl.bioontology.org/ontology/MESH/C105804 |
| altLabel |
TGM1 protein, human transglutaminase TGM1 keratinocyte transglutaminase K transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase), human transglutaminase Type I TGASE, human TGM1 protein epidermal type I transglutaminase transglutaminase1 Tgm1 protein, mouse transglutaminase K transglutaminase 1, rat Tgm1 protein, rat TGK protein, human transglutaminase i TGase 1, mouse transglutaminase 1, K polypeptide, mouse |
| cui |
C0538672 C1570282 C1570284 C1570283 |
| HM |
D011503 |
| Inverse of RB |
EC 2.3.2.13 |
| Mapped to | |
| MDA |
19970528 |
| MeSH Frequency |
311 |
| MMR |
20050622 |
| notation |
C105804 |
| prefLabel |
transglutaminase 1 |
| RR |
EC 2.3.2.13 |
| SC |
1 |
| Scope Statement |
TRANSGLUTAMINASE 1 (TGM1 or TGK) is a membrane-associated enzyme involved in the formation of the cornified cell envelope of the EPIDERMIS; Mutations in the human gene (14q11) cause autosomal recessive lamellar ICHTHYOSIS; Distinguish from GAMMA-GLUTAMYLTRANSPEPTIDASE involved with glutathione metabolism and other protein cross-linking transglutaminase; RefSeq NM_019984 (mouse), NM_031659 (rat), NM_000359 (human) |
| SRC |
Arch Dermatol Res 1997 Jan;289(2):116-9 |
| TERMUI |
T644028 T433948 T644023 T433952 T644031 T305888 T433951 T644025 T644029 T644030 T644027 T305887 T433947 T433950 T644022 T433949 T644026 T644024 |
| TH |
NLM (2001) NLM (2005) NLM (1997) |
| tui |
T116 T126 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/190195 | Online Mendelian Inheritance in Man | LOOM |