Difference between revisions of "Part:BBa K5387002"
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TGM1 mutations in most severe phenotypes of lamellar ichthyosis result in very low or undetectable levels of enzyme activity. This leads to impaired formation of the cell envelope and formation of scales. | TGM1 mutations in most severe phenotypes of lamellar ichthyosis result in very low or undetectable levels of enzyme activity. This leads to impaired formation of the cell envelope and formation of scales. | ||
| − | The gene codes for one of the enzymes used for [https://2024.igem.wiki/linkoping/ iGEM24_Linkoping] substitution therapy for | + | The gene codes for one of the enzymes used for [https://2024.igem.wiki/linkoping/ iGEM24_Linkoping] substitution therapy for ichthyosis. |
===References === | ===References === | ||
[1] Boeshans KM, Mueser TC, Ahvazi B. A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis. J Mol Model. 2007;13:233-246. doi:10.1007/s00894-006-0144-9 | [1] Boeshans KM, Mueser TC, Ahvazi B. A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis. J Mol Model. 2007;13:233-246. doi:10.1007/s00894-006-0144-9 | ||
Latest revision as of 13:29, 29 September 2024
TGM1
Usage and Biology
Transglutaminase 1 (TGase 1) encoded by TGM1, a 90 kDa membrane-bound enzyme, is the largest of the nine known TGases in the human genome. It is predominantly expressed in stratified squamous epithelium in the upper layers of the stratum corneum. It catalyzes amide cross linking between glutamine and lysine residues on precursor proteins involved in the formation of cell envelopes (CE), the highly insoluble membranous structures of the stratum corneum. TGase 1 needs to undergo proteolysis to become active, which in vitro can be achieved in the presence of calcium ions and a protease (Dispase I), but the conditions underlying this process in vivo remain uncertain. Transglutaminase I is anchored to the plasma membrane and submerged into the cytoplasm [1].
TGM1 mutations in most severe phenotypes of lamellar ichthyosis result in very low or undetectable levels of enzyme activity. This leads to impaired formation of the cell envelope and formation of scales.
The gene codes for one of the enzymes used for iGEM24_Linkoping substitution therapy for ichthyosis.
References
[1] Boeshans KM, Mueser TC, Ahvazi B. A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis. J Mol Model. 2007;13:233-246. doi:10.1007/s00894-006-0144-9