Reference Gene
| Gene name | Alias | Species | Exons | Type | Paralogs | EC number | OMIM |
|---|---|---|---|---|---|---|---|
| TGM5 transglutaminase 5 | TGX , PSS2 , TGM6 , TGMX , TG(X) , TGASE5 , TGASEX | Homo sapiens | 14 | protein-coding | TGM2 , TGM4 , EPB42 , TGM6 , TGM7 , TGM3 , F13A1 , TGM1 | 2.3.2.13 | 603805 |
Summary
This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]
Gene Loss events - TGM5 (4 results)
| GL_ID | Species | Order | Gene Loss Mechanism | Loss Type | Lineage Specific | Citation |
|---|---|---|---|---|---|---|
| GL_BXAQLA | Physeter catodon | Artiodactyla | LOF (frameshift, premature stop, ss) | Full | Cetacea | 10.1038/s41467-018-03667-1 |
| GL_P3JG9P | Tursiops truncatus | Artiodactyla | LOF (frameshift, premature stop, ss) | Full | Cetacea | 10.1038/s41467-018-03667-1 |
| GL_VMJHKP | Orcinus orca | Artiodactyla | LOF (frameshift, premature stop, ss) | Full | Cetacea | 10.1038/s41467-018-03667-1 |
| GL_YPRQRT | Balaenoptera acutorostrata | Artiodactyla | LOF (frameshift, premature stop, ss) | Full | Cetacea | 10.1038/s41467-018-03667-1 |