Table 1.
The transglutaminase protein family
| Gene | Main functions | Main sites of expression/activity | Monogenic disorders (MIM#) | Autoimmune disorders |
| TGM1 | Epithelial barrier integrity; cornified envelope | Stratified squamous epithelia | Ichthyosis, congenital, autosomal recessive 1 (242300) | — |
| TGM2 | Apoptosis signaling; extracellular matrix stabilization | Widespread | — | Celiac disease |
| TGM3 | Epithelial barrier integrity; cornified envelope; hair shaft stabilization | Stratified squamous epithelia | Uncombable hair syndrome 2 (617251) | Dermatitis herpetiformis |
| TGM4 | Sperm capacitation; semen coagulation | Prostate epithelium/semen | — | Autoimmune polyendocrine syndrome type 1 |
| TGM5 | Epithelial barrier integrity; cornified envelope | Stratified squamous epithelia | Peeling skin syndrome 2 (609796) | — |
| TGM6 | Unknown | Not well-defined | Spinocerebellar ataxia 35 (613908) | Gluten associated neuropathy and ataxia |
| TGM7 | Unknown | Not well-defined | — | — |
| F13A1 | Blood clotting; wound healing | Blood plasma; widespread | Factor XIIIA deficiency (613225) | Autoimmune FXIII deficient hemophilia |
| EPB42 | Erythrocyte cell membrane integrity | Erythrocytes | Spherocytosis, type 5 (612690) | — |
MIM#, Mendelian Inheritance in Man number.