TGM5 Antibody

1. Acral PSS (APSS) (OMIM 609796), typically non-inflammatory, is confined to distal extremities with localized exfoliation of the epidermis. It is caused by mutations in the TGM5 gene, encoding transglutaminase 5[3] or in the CTSA gene, encoding cystatin A and it is inherited in autosomal recessive pattern PMID: 25510201
2. We report both European and non-European families with acral peeling skin syndrome carrying mutations in the TGM5 gene. In 5 patients, we found 3 novel mutations: c.1001+2_1001+3del, c.1171G>A and c.1498C>T. PMID: 25644735
3. Data trebles the number of TMG5 mutations and provides further evidence that pCly113Cys is a founder mutation in the European population. PMID: 24628291
4. Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis. PMID: 23189155
5. TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome. PMID: 22622422
6. analysis of a recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome PMID: 22036214
7. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. PMID: 20164844
8. transglutaminase 5 contributes, as a secondary effect, to the hyperkeratotic phenotype in ichthyosis (both vulgaris and lamellar) and in psoriasis. PMID: 12230511
9. Results demonstrate that transglutaminase 5 is able to induce cell death when intracellularly overexpressed. PMID: 15290346
10. Data show that transglutaminase (TGase) 5 is acetylated at the N-terminal end, is active upon treatment with phorbol acetate, and co-localises with vimentin intermediate filaments. PMID: 15290349
11. Transglutaminase 5 is expressed during hair follicle homeostasis. PMID: 16117804
12. A homozygous missense mutation in TGM5 abolishes epidermal TGM5 activity and causes acral peeling skin syndrome. PMID: 16380904
13. TG5 full-length enzyme has very low enzymatic activity, while the 53-kDa proteolytically processed form is highly active. PMID: 18509357
14. A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family. PMID: 19440220

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HGNC: 11781

OMIM: 603805

KEGG: hsa:9333

STRING: 9606.ENSP00000220420

UniGene: Hs.129719