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transglutaminase 1

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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)

Also Known As:

TGASE, human; TGK protein, human; TGM1 protein; TGM1 protein, human; TGase 1, mouse; Tgm1 protein, mouse; Tgm1 protein, rat; epidermal type I transglutaminase; keratinocyte transglutaminase K; transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase), human; transglutaminase 1, K polypeptide, mouse; transglutaminase 1, rat; transglutaminase K; transglutaminase TGM1; transglutaminase Type I; transglutaminase i; transglutaminase1

Networked: 81 relevant articles (1 outcomes, 2 trials/studies)

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Bio-Agent Context: Research Results

Enzymes and Coenzymes
- Enzymes: 34502
  - Transferases: 4296
    - Acyltransferases: 22
      - Aminoacyltransferases
        Transglutaminases: 76
        transglutaminase 1: 81

Experts

1.	Hitomi, Kiyotaka: 4 articles (11/2015 - 04/2010)
2.	Yamanishi, Kiyofumi: 3 articles (06/2015 - 01/2002)
3.	Akiyama, Masashi: 3 articles (08/2011 - 02/2007)
4.	Rice, R H: 3 articles (11/2003 - 07/2000)
5.	Yamamoto, Masaaki: 2 articles (06/2015 - 03/2012)
6.	Sakaguchi, Yoshiko: 2 articles (06/2015 - 03/2012)
7.	Tsuda, Tatsuya: 2 articles (06/2015 - 03/2012)
8.	Rice, Robert H: 2 articles (01/2013 - 09/2005)
9.	Gruber, Robert: 2 articles (01/2013 - 09/2005)
10.	Matsuki, Masato: 2 articles (03/2012 - 01/2002)

Related Diseases

1.	Psoriasis (Pustulosis Palmaris et Plantaris) 01/01/2012 - "Transglutaminase 1 is crucial in developing the epidermal barrier, however the skin also contains other family members, in particular TGase 3. This isoform is highly expressed in the cornified layer, where it is believed to stabilize the epidermis and its reduction is implicated in psoriasis. " 09/01/1992 - "In normal skin, transglutaminase-K is expressed as a band immediately below the stratum corneum, whereas in psoriasis and healing skin its expression is considerably expanded throughout the suprabasal layers. " 07/01/2004 - "To characterize the biological effects further and to evaluate the efficacy of topical paricalcitol treatment in psoriasis, we have analysed immunohistochemically the expression of one of the markers for epidermal differentiation (transglutaminase K) in paricalcitol-treated skin as compared with placebo treatment. " 07/01/1997 - "To further characterize the biological effects of topical calcitriol treatment in psoriasis, we have analyzed immunohistochemically the expression of markers for epidermal proliferation (proliferating cell nuclear antigen=PCNA) and differentiation (transglutaminase K, involucrin, cytokeratin 16), as well as inflammation (CD1a, 55 kDa TNF-receptor, NAP-1/IL-8) in calcitriol-treated psoriatic skin in situ. "
2.	Lamellar Ichthyosis (Harlequin Ichthyosis) 07/01/2000 - "This study addresses the contribution of an Sp1 response element in the proximal promoter of the transglutaminase 1 gene to transcription in normal epidermis and in a case of lamellar ichthyosis lacking transglutaminase 1 activity. " 03/01/1995 - "We recently mapped the disease locus for severe autosomal recessive lamellar ichthyosis (LI) to chromosome 14q11 and showed complete linkage with TGM1, the gene encoding transglutaminase 1. We have now identified point mutations in TGM1 in two of the multiplex LI families used in the linkage study. " 12/01/2015 - "Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis." 06/01/2015 - "Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene." 05/01/2015 - "Novel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype."
3.	Ichthyosis (Xeroderma) 04/15/2012 - "The approach was applied to detect the mutation sites, Arg142Cys and Gly529Ile, of transglutaminase 1 gene in autosomal recessive congenital ichthyosis. " 01/01/2012 - "Mutations in the TGM1 gene encoding transglutaminase 1 are a major cause of autosomal recessive congenital ichthyosis. " 01/01/2008 - "Because mutations of transglutaminase 1 (TGM1) gene are associated with autosomal recessive ichthyosis in people, this gene was investigated as a candidate for the diseases in cattle. " 10/01/2007 - "Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis." 01/01/2004 - "Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families."
4.	Congenital Ichthyosiform Erythroderma 01/01/2003 - "This disease is often caused by mutations in the gene encoding the enzyme transglutaminase 1. Congenital ichthyosiform erythroderma is another phenotype within CARI, marked by generalized redness and fine white scale. " 09/01/2005 - "Defective transglutaminase 1 (TGM1) is a causative factor in some cases of lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) despite large differences in the phenotype between these conditions. " 11/01/1998 - "Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway." 06/01/2003 - "Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma." 03/01/2012 - "Mutations in the gene encoding transglutaminase 1 (TG1) are responsible for various types of autosomal recessive congenital ichthyosis (ARCI), such as lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) and some minor variants of ARCI. "
5.	Squamous Cell Carcinoma (Epidermoid Carcinoma) 04/15/1990 - "Transglutaminase I was expressed at a limited level in normal buccal mucosa, was expressed at a low level in the basal layer of hyperplastic lesions, was somewhat elevated in dysplasia, and was markedly enhanced in squamous cell carcinoma. " 12/01/1998 - "In contrast, transglutaminase I activity was not elevated in primary papillomas or squamous cell carcinomas. " 01/21/1994 - "Several squamous cell carcinoma cell lines do not show a detectable decrease in cdc2 or increase in transglutaminase type I mRNA levels after IFN-gamma treatment and appear to be altered in their control of squamous differentiation." 05/01/2003 - "Calcium induces both involucrin and transglutaminase-K in normal keratinocytes (NHK) but not in squamous carcinoma cell lines (SCC). " 01/01/1999 - "The removal of serum from the growth medium of two head and neck squamous cell carcinoma lines 1483 and SqCC/Y1 resulted in a decrease in RAR beta mRNA level and concurrent increases in the expression of the keratin K1 and transglutaminase type I (TGase I), which are markers of differentiation of keratinizing squamous epithelial cells. "

Related Drugs and Biologics

1.	paricalcitol (Zemplar)
2.	Keratins (Keratin)
3.	Messenger RNA (mRNA)
4.	involucrin
5.	Proteins (Proteins, Gene)
6.	loricrin
7.	filaggrin
8.	Keratin-16 (Keratin 16)
9.	Steryl-Sulfatase (Steroid Sulfatase)
10.	Proliferating Cell Nuclear Antigen (PCNA)